Management
Guidelines
Portal
PROP Nutrition Management Guidelines
First Edition
March 2017, v.1.2
Updated: September 2017
Feedback/Comments
Send us your Feedback & Comments
References

Analyzed Literature

ID Reference
F.2630
Abacan, M., & Boneh, A. (Aug 2013). Use of carglumic acid in the treatment of hyperammonaemia during metabolic decompensation of patients with propionic acidaemia. Mol. Genet. Metab., 109, 397-401. doi:10.1016/j.ymgme.2013.05.018
F.2840
Ah Mew, N., McCarter, R., Daikhin, Y., Nissim, I., Yudkoff, M., & Tuchman, M. (Jul 2010). N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia. Pediatrics, 126, e208-14. doi:10.1542/peds.2010-0008
F.240
Al-Hassnan, Z.N., Boyadjiev, S.A., Praphanphoj, V., Hamosh, A., Braverman, N.E., Thomas, G.H., & Geraghty, M.T. (2003). The relationship of plasma glutamine to ammonium and of glycine to acid-base balance in propionic acidaemia. J. Inherit. Metab. Dis., 26(1):89-91.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/12872849
F.2962
Al-Owain, M., Kaya, N., Al-Shamrani, H., Al-Bakheet, A., Qari, A., Al-Muaigl, S., & Ghaziuddin, M. (2013). Autism spectrum disorder in a child with propionic acidemia. JIMD Rep, 7, 63-6. doi:10.1007/8904_2012_143
F.533
Ameloot, K., Vlasselaers, D., Dupont, M., Meersseman, W., Desmet, L., Vanhaecke, J., Vermeer, N., Meyns, B., Pirenne, J., Cassiman, D., De Laet, C., Goyens, P., Malekzadeh-Milan, S.G., Biarent, D., Meulemans, A., & Debray, F.G. (May 2011). Left ventricular assist device as bridge to liver transplantation in a patient with propionic acidemia and cardiogenic shock. J. Pediatr., 158, 866-7; author reply 867. doi:10.1016/j.jpeds.2010.12.031
F.3179
Arias, C., Raimann, E., Peredo, P., Cabello, J.F., Castro, G., Valiente, A., de la Parra, A., Bravo, P., Okuma, C., & Cornejo, V. (2014). Propionic acidemia and optic neuropathy: a report of two cases. JIMD Rep, 12, 1-4. doi:10.1007/8904_2013_234
F.3315
Çaltik Yilmaz, A., Kiliç, M., Büyükkaragöz, B., Tayfur, A.Ç., & Koçak, M. (Jan 2015). Urolithiasis in an infant with propionic acidemia: questions. Pediatr. Nephrol., 30, 75-6. doi:10.1007/s00467-013-2653-y
F.448
Barshes, N.R., Vanatta, J.M., Patel, A.J., Carter, B.A., O'Mahony, C.A., Karpen, S.J., & Goss, J.A. (Nov 2006). Evaluation and management of patients with propionic acidemia undergoing liver transplantation: a comprehensive review. Pediatr Transplant, 10, 773-81. doi:10.1111/j.1399-3046.2006.00569.x
F.485
Barshop, B.A., Yoshida, I., Ajami, A., Sweetman, L., Wolff, J.A., Sweetman, F.R., Prodanos, C., Smith, M., & Nyhan, W.L. (Jul 1991). Metabolism of 1-13C-propionate in vivo in patients with disorders of propionate metabolism. Pediatr. Res., 30, 15-22. doi:10.1203/00006450-199107000-00004
F.3457
Baruteau, J., Hargreaves, I., Krywawych, S., Chalasani, A., Land, J.M., Davison, J.E., Kwok, M.K., Christov, G., Karimova, A., Ashworth, M., Anderson, G., Prunty, H., Rahman, S., & Grünewald, S. (Jul 2014). Successful reversal of propionic acidaemia associated cardiomyopathy: evidence for low myocardial coenzyme Q10 status and secondary mitochondrial dysfunction as an underlying pathophysiological mechanism. Mitochondrion, 17, 150-6. doi:10.1016/j.mito.2014.07.001
F.447
Baumgartner, D., Scholl-Bürgi, S., Sass, J.O., Sperl, W., Schweigmann, U., Stein, J.I., & Karall, D. (Feb 2007). Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia. J. Pediatr., 150, 192-7, 197.e1. doi:10.1016/j.jpeds.2006.11.043
F.3399
Baumgartner, M.R., Hörster, F., Dionisi-Vici, C., Haliloglu, G., Karall, D., Chapman, K.A., Huemer, M., Hochuli, M., Assoun, M., Ballhausen, D., Burlina, A., Fowler, B., Grünert, S.C., Grünewald, S., Honzik, T., Merinero, B., Pérez-Cerdá, C., Scholl-Bürgi, S., Skovby, F., Wijburg, F., MacDonald, A., Martinelli, D., Sass, J.O., Valayannopoulos, V., & Chakrapani, A. (Sep 2014). Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis, 9, 130. doi:10.1186/s13023-014-0130-8
F.497
Bergman, A.J., Van der Knaap, M.S., Smeitink, J.A., Duran, M., Dorland, L., Valk, J., & Poll-The, B.T. (Sep 1996). Magnetic resonance imaging and spectroscopy of the brain in propionic acidemia: clinical and biochemical considerations. Pediatr. Res., 40, 404-9. doi:10.1203/00006450-199609000-00007
F.516
Bergstrøm, T., Greter, J., Levin, A.H., Steen, G., Tryding, N., & Wass, U. (Apr 1981). Propionyl-CoA carboxylase deficiency: case report, effect of low-protein diet and identification of 3-oxo-2-methylvaleric acid 3-hydroxy-2-methylvaleric acid, and maleic acid in urine. Scand. J. Clin. Lab. Invest., 41(2):117-26.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/7313494
F.449
Bhan, A.K., & Brody, C. (2001 Jul-Aug). Propionic acidemia: a rare cause of cardiomyopathy. Congest Heart Fail, 7(4):218-219.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/11828170
F.3189
Blecker, U., De Meirleir, L., De Raeve, L., Ramet, J., & Vandenplas, Y. (Mar 1994). Acrodermatitis-like syndrome in organic aciduria. Pediatrics, 93(3):537.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8115227
F.3194
Broomfield, A., Gunny, R., Prabhakar, P., & Grunewald, S. (Dec 2010). Spontaneous rapid resolution of acute basal ganglia changes in an untreated infant with propionic acidemia: a clue to pathogenesis?. Neuropediatrics, 41, 256-60. doi:10.1055/s-0031-1273720
G.79
Bruce Barshop (2004?). Disorders of Valine and Isoleucine Metabolism. University of California San Diego.
F.3196
Bruggink, J.L., van Spronsen, F.J., Wijnberg-Williams, B.J., & Bos, A.F. (Jul 2009). Pilot use of the early motor repertoire in infants with inborn errors of metabolism: outcomes in early and middle childhood. Early Hum. Dev., 85, 461-5. doi:10.1016/j.earlhumdev.2009.04.002
F.3199
Bulan, K., Dogan, M., Kaba, S., Dogan, Ş.Z., Akbayram, S., & Öner, A.F. (Apr 2014). Immune thrombocytopenic purpura in a case of propionic acidemia: case report. J. Pediatr. Hematol. Oncol., 36, 255-6. doi:10.1097/MPH.0b013e31829b92fe
F.61
Bultron, G., Seashore, M.R., Pashankar, D.S., & Husain, S.Z. (Sep 2008). Recurrent acute pancreatitis associated with propionic acidemia. J. Pediatr. Gastroenterol. Nutr., 47, 370-1. doi:10.1097/MPG.0b013e3181132252
F.593
Burlina, A.B., Dionisi-Vici, C., Piovan, S., Saponara, I., Bartuli, A., Sabetta, G., & Zacchello, F. (1995). Acute pancreatitis in propionic acidaemia. J. Inherit. Metab. Dis., 18(2):169-72.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/7564238
F.591
Burns, S.P., Iles, R.A., Saudubray, J.M., & Chalmers, R.A. (Jan 1996). Propionylcarnitine excretion is not affected by metronidazole administration to patients with disorders of propionate metabolism. Eur. J. Pediatr., 155(1):31-5.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8750807
F.450
Burton, B.K. (Dec 1998). Inborn errors of metabolism in infancy: a guide to diagnosis. Pediatrics, 102(6):E69.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/9832597
F.3273
Chapman, K.A., Gropman, A., MacLeod, E., Stagni, K., Summar, M.L., Ueda, K., Ah Mew, N., Franks, J., Island, E., Matern, D., Pena, L., Smith, B., Sutton, V.R., Urv, T., Venditti, C., & Chakrapani, A. (Jan 2012). Acute management of propionic acidemia. Mol. Genet. Metab., 105, 16-25. doi:10.1016/j.ymgme.2011.09.026
F.3322
Chapman, K.A., Summar, M.L., & Enns, G.M. (May 2012). Propionic acidemia: to liver transplant or not to liver transplant?. Pediatr Transplant, 16, 209-10. doi:10.1111/j.1399-3046.2012.01649.x
F.3460
Charbit-Henrion, F., Lacaille, F., McKiernan, P., Girard, M., de Lonlay, P., Valayannopoulos, V., Ottolenghi, C., Chakrapani, A., Preece, M., Sharif, K., Chardot, C., Hubert, P., & Dupic, L. (Mar 2015). Early and late complications after liver transplantation for propionic acidemia in children: a two centers study. Am. J. Transplant., 15, 786-91. doi:10.1111/ajt.13027
G.20
Charles R Scriver editor (2001). The Metabolic and Molecular Basis of Inherited Disease 8th edition. McGraw Hill Company Inc..
F.463
Chemelli, A.P., Schocke, M., Sperl, W., Trieb, T., Aichner, F., & Felber, S. (Jun 2000). Magnetic resonance spectroscopy (MRS) in five patients with treated propionic acidemia. J Magn Reson Imaging, 11(6):596-600.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10862057
F.598
Collins, J., & Kelly, D. (Jan 1994). Cardiomyopathy in propionic acidaemia. Eur. J. Pediatr., 153(1):53.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8313926
F.446
Cox, G.F. (2007). Diagnostic Approaches to Pediatric Cardiomyopathy of Metabolic Genetic Etiologies and Their Relation to Therapy. Prog. Pediatr. Cardiol., 24, 15-25. doi:10.1016/j.ppedcard.2007.08.013
F.535
Daniotti, M., la Marca, G., Fiorini, P., & Filippi, L. (Jan 2011). New developments in the treatment of hyperammonemia: emerging use of carglumic acid. Int J Gen Med, 4, 21-8. doi:10.2147/IJGM.S10490
F.3384
Davison, J.E., Davies, N.P., Wilson, M., Sun, Y., Chakrapani, A., McKiernan, P.J., Walter, J.H., Gissen, P., & Peet, A.C. (May 2011). MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation. Orphanet J Rare Dis, 6, 19. doi:10.1186/1750-1172-6-19
F.57
de Baulny, H.O., Benoist, J.F., Rigal, O., Touati, G., Rabier, D., & Saudubray, J.M. (2005). Methylmalonic and propionic acidaemias: management and outcome. J. Inherit. Metab. Dis., 28, 415-23. doi:10.1007/s10545-005-7056-1
F.444
de Keyzer, Y., Valayannopoulos, V., Benoist, J.F., Batteux, F., Lacaille, F., Hubert, L., Chrétien, D., Chadefeaux-Vekemans, B., Niaudet, P., Touati, G., Munnich, A., & de Lonlay, P. (Jul 2009). Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria. Pediatr. Res., 66, 91-5. doi:10.1203/PDR.0b013e3181a7c270
F.500
De Raeve, L., De Meirleir, L., Ramet, J., Vandenplas, Y., & Gerlo, E. (Mar 1994). Acrodermatitis enteropathica-like cutaneous lesions in organic aciduria. J. Pediatr., 124(3):416-20.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8120711
F.3320
de Sain-van der Velden, M.G., van der Ham, M., Verhoeven-Duif, N.M., Visser, G., & van Hasselt, P.M. (Jul 2014). Comment on Zwickler et al.: Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia. J. Inherit. Metab. Dis., 37, 651-2. doi:10.1007/s10545-014-9706-7
F.585
Decsi, T., Sperl, W., & Koletzko, B. (Nov 1997). Essential fatty acids in clinically stable children with propionic acidaemia. J. Inherit. Metab. Dis., 20(6):778-82.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/9427145
F.3386
Dejean de la Bâtie, C., Barbier, V., Valayannopoulos, V., Touati, G., Maltret, A., Brassier, A., Arnoux, J.B., Grévent, D., Chadefaux, B., Ottolenghi, C., Canouï, P., & de Lonlay, P. (Feb 2014). Acute psychosis in propionic acidemia: 2 case reports. J. Child Neurol., 29, 274-9. doi:10.1177/0883073813508812
F.247
Deodato, F., Boenzi, S., Santorelli, F.M., & Dionisi-Vici, C. (May 2006). Methylmalonic and propionic aciduria. Am J Med Genet C Semin Med Genet, 142C, 104-12. doi:10.1002/ajmg.c.30090
G.78
Dianne Frazier (2002?). MMA and PROP. University of North Carolina.
F.3387
Dweikat, I.M., Naser, E.N., Abu Libdeh, A.I., Naser, O.J., Abu Gharbieh, N.N., Maraqa, N.F., & Abu Libdeh, B.Y. (May 2011). Propionic acidemia mimicking diabetic ketoacidosis. Brain Dev., 33, 428-31. doi:10.1016/j.braindev.2010.06.016
G.64
Elaina Jurecki (April, 2008). Powerpoint Presentation. Kaiser Permanente.
G.12
Elaina Jurecki (Winter 2009). An Overview of Nutritional Management for Organic Acidemia. OAA Newsletter.
F.438
Evans, S., Shelton, F., Holden, C., Daly, A., Hopkins, V., & MacDonald, A. (Sep 2010). Monitoring of home safety issues in children on enteral feeds with inherited metabolic disorders. Arch. Dis. Child., 95, 668-72. doi:10.1136/adc.2008.148338
F.437
Feillet, F., Bodamer, O.A., Dixon, M.A., Sequeira, S., & Leonard, J.V. (May 2000). Resting energy expenditure in disorders of propionate metabolism. J. Pediatr., 136, 659-63. doi:10.1067/mpd.2000.104290
F.493
Filipowicz, H.R., Ernst, S.L., Ashurst, C.L., Pasquali, M., & Longo, N. (Jun 2006). Metabolic changes associated with hyperammonemia in patients with propionic acidemia. Mol. Genet. Metab., 88, 123-30. doi:10.1016/j.ymgme.2005.11.016
F.2859
Filippi, L., Gozzini, E., Cavicchi, C., Morrone, A., Fiorini, P., Donzelli, G., Malvagia, S., & la Marca, G. (Dec 2009). Insulin-resistant hyperglycaemia complicating neonatal onset of methylmalonic and propionic acidaemias. J. Inherit. Metab. Dis., 32 Suppl 1, S179-86. doi:10.1007/s10545-009-1141-9
F.3400
Filippi, L., Gozzini, E., Fiorini, P., Malvagia, S., la Marca, G., & Donati, M.A. (2010). N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria. Neonatology, 97, 286-90. doi:10.1159/000255168
F.532
Fragaki, K., Cano, A., Benoist, J.F., Rigal, O., Chaussenot, A., Rouzier, C., Bannwarth, S., Caruba, C., Chabrol, B., & Paquis-Flucklinger, V. (May 2011). Fatal heart failure associated with CoQ10 and multiple OXPHOS deficiency in a child with propionic acidemia. Mitochondrion, 11, 533-6. doi:10.1016/j.mito.2011.02.002
G.76
Frank Bowling (January 2003). Prenatal treatment with carnitine in PROP. Metab-L Listserv.
F.3318
Fujisawa, D., Nakamura, K., Mitsubuchi, H., Ohura, T., Shigematsu, Y., Yorifuji, T., Kasahara, M., Horikawa, R., & Endo, F. (Dec 2013). Clinical features and management of organic acidemias in Japan. J. Hum. Genet., 58, 769-74. doi:10.1038/jhg.2013.97
F.3461
Gallego-Villar, L., Pérez, B., Ugarte, M., Desviat, L.R., & Richard, E. (Sep 2014). Antioxidants successfully reduce ROS production in propionic acidemia fibroblasts. Biochem. Biophys. Res. Commun., 452, 457-61. doi:10.1016/j.bbrc.2014.08.091
F.525
Gebhardt, B., Dittrich, S., Parbel, S., Vlaho, S., Matsika, O., & Bohles, H. (2005). N-carbamylglutamate protects patients with decompensated propionic aciduria from hyperammonaemia. J. Inherit. Metab. Dis., 28, 241-4. doi:10.1007/s10545-005-5260-7
F.244
Gilmore, A., Bock, H.G., & Nowicki, M. (Dec 2008). Hyperamylasemia/hyperlipasemia in a child with propionic acidemia. Am. J. Med. Genet. A, 146A, 3090-1. doi:10.1002/ajmg.a.32561
F.2807
Grünert, S.C., Müllerleile, S., De Silva, L., Barth, M., Walter, M., Walter, K., Meissner, T., Lindner, M., Ensenauer, R., Santer, R., Bodamer, O.A., Baumgartner, M.R., Brunner-Krainz, M., Karall, D., Haase, C., Knerr, I., Marquardt, T., Hennermann, J.B., Steinfeld, R., Beblo, S., Koch, H.G., Konstantopoulou, V., Scholl-Bürgi, S., van Teeffelen-Heithoff, A., Suormala, T., Sperl, W., Kraus, J.P., Superti-Furga, A., Schwab, K.O., & Sass, J.O. (Jan 2013). Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. Orphanet J Rare Dis, 8, 6. doi:10.1186/1750-1172-8-6
F.498
Griffin, T.A., Hostoffer, R.W., Tserng, K.Y., Lebovitz, D.J., Hoppel, C.L., Mosser, J.L., Kaplan, D., & Kerr, D.S. (Jul 1996). Parathyroid hormone resistance and B cell lymphopenia in propionic acidemia. Acta Paediatr., 85(7):875-8.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8819559
F.2810
Gupta, N., & Kabra, M. (Jul 2011). Acute management of sick infants with suspected inborn errors of metabolism. Indian J Pediatr, 78, 854-9. doi:10.1007/s12098-011-0422-0
F.2811
Haas, R.H., Marsden, D.L., Capistrano-Estrada, S., Hamilton, R., Grafe, M.R., Wong, W., & Nyhan, W.L. (Jan 1995). Acute basal ganglia infarction in propionic acidemia. J. Child Neurol., 10, 18-22. doi:10.1177/088307389501000104
F.595
Henriquez, H., el Din, A., Ozand, P.T., Subramanyam, S.B., & al Gain, S.I. (Nov 1994). Emergency presentations of patients with methylmalonic acidemia, propionic acidemia and branched chain amino acidemia (MSUD). Brain Dev., 16 Suppl:86-93.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/7726386
F.2731
Hussein, M.H., Hashimoto, T., Suzuki, T., Daoud, G.A., Goto, T., Nakajima, Y., Kato, T., Hibi, M., Tomishige, H., Hara, F., Kato, S., Kakita, H., Kamei, M., Ito, T., Kato, I., Sugioka, A., & Togari, H. (Feb 2013). Children undergoing liver transplantation for treatment of inherited metabolic diseases are prone to higher oxidative stress, complement activity and transforming growth factor-β1. Ann. Transplant., 18, 63-8. doi:10.12659/AOT.883820
F.511
Hyman, S.L., Porter, C.A., Page, T.J., Iwata, B.A., Kissel, R., & Batshaw, M.L. (Oct 1987). Behavior management of feeding disturbances in urea cycle and organic acid disorders. J. Pediatr., 111(4):558-62.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/2443629
F.574
Ierardi-Curto, L., Kaplan, P., Saitta, S., Mazur, A., & Berry, G.T. (Feb 2000). The glutamine paradox in a neonate with propionic acidaemia and severe hyperammonaemia. J. Inherit. Metab. Dis., 23(1):85-6.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10682312
F.442
Iwashima, S., Ishikawa, T., Ohzeki, T., & Endou, Y. (Aug 2010). Delayed enhancement cardiac magnetic resonance imaging in propionic acidemia. Pediatr Cardiol, 31, 884-6. doi:10.1007/s00246-010-9723-8
F.2816
Jameson, E., & Walter, J. (Sep 2008). Cardiac arrest secondary to long QT(C )in a child with propionic acidemia. Pediatr Cardiol, 29, 969-70. doi:10.1007/s00246-007-9160-5
G.19
John H. Walter, editor (2006). Inborn Metabolic Diseases Diagnosis and Treatment. Royal Manchester Children Hospital Manchester Great Britian.
F.519
Jones, S., Reed, C.A., Vijay, S., Walter, J.H., & Morris, A.A. (Dec 2008). N-carbamylglutamate for neonatal hyperammonaemia in propionic acidaemia. J. Inherit. Metab. Dis., 31 Suppl 2, S219-22. doi:10.1007/s10545-008-0777-1
F.253
Kahler, S.G., Millington, D.S., Cederbaum, S.D., Vargas, J., Bond, L.D., Maltby, D.A., Gale, D.S., & Roe, C.R. (Aug 1989). Parenteral nutrition in propionic and methylmalonic acidemia. J. Pediatr., 115(2):235-41.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/2502611
F.557
Kakavand, B., Schroeder, V.A., & Di Sessa, T.G. (2006 Jan-Feb). Coincidence of long QT syndrome and propionic acidemia. Pediatr Cardiol, 27, 160-161. doi:10.1007/s00246-005-1129-7
F.2738
Kalloghlian, A., Gleispach, H., & Ozand, P.T. (Apr 1992). A patient with propionic acidemia managed with continuous insulin infusion and total parenteral nutrition. J. Child Neurol., 7 Suppl, S88-91. doi:10.1177/08830738920070011411
F.2740
Kasahara, M., Sakamoto, S., Kanazawa, H., Karaki, C., Kakiuchi, T., Shigeta, T., Fukuda, A., Kosaki, R., Nakazawa, A., Ishige, M., Nagao, M., Shigematsu, Y., Yorifuji, T., Naiki, Y., & Horikawa, R. (May 2012). Living-donor liver transplantation for propionic acidemia. Pediatr Transplant, 16, 230-4. doi:10.1111/j.1399-3046.2011.01607.x
F.2741
Kasapkara, C.S., Akar, M., Yürük Yıldırım, Z.N., Tüzün, H., Kanar, B., & Ozbek, M.N. (Apr 2014). Severe renal failure and hyperammonemia in a newborn with propionic acidemia: effects of treatment on the clinical course. Ren Fail, 36, 451-2. doi:10.3109/0886022X.2013.865484
F.3476
Kölker, S., Garcia-Cazorla, A., Cazorla, A.G., Valayannopoulos, V., Lund, A.M., Burlina, A.B., Sykut-Cegielska, J., Wijburg, F.A., Teles, E.L., Zeman, J., Dionisi-Vici, C., Barić, I., Karall, D., Augoustides-Savvopoulou, P., Aksglaede, L., Arnoux, J.B., Avram, P., Baumgartner, M.R., Blasco-Alonso, J., Chabrol, B., Chakrapani, A., Chapman, K., I Saladelafont, E.C., Couce, M.L., de Meirleir, L., Dobbelaere, D., Dvorakova, V., Furlan, F., Gleich, F., Gradowska, W., Grünewald, S., Jalan, A., Häberle, J., Haege, G., Lachmann, R., Laemmle, A., Langereis, E., de Lonlay, P., Martinelli, D., Matsumoto, S., Mühlhausen, C., de Baulny, H.O., Ortez, C., Peña-Quintana, L., Ramadža, D.P., Rodrigues, E., Scholl-Bürgi, S., Sokal, E., Staufner, C., Summar, M.L., Thompson, N., Vara, R., Pinera, I.V., Walter, J.H., Williams, M., & Burgard, P. (Nov 2015). The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. J. Inherit. Metab. Dis., 38, 1041-57. doi:10.1007/s10545-015-9839-3
G.80
Keiko Ueda and Elaina Jurecki (February 2010). Nutritional Management for PROP. Tufts and BioMarin.
F.513
Kelts, D.G., Ney, D., Bay, C., Saudubray, J.M., & Nyhan, W.L. (Jan 1985). Studies on requirements for amino acids in infants with disorders of amino acid metabolism. I. Effect of alanine. Pediatr. Res., 19, 86-91. doi:10.1203/00006450-198501000-00023
G.77
Kim McBride (May 2003). Transplantation in PROP. Metab-L Listserv.
F.565
Kim, T.W., & Hall, S.R. (Jul 2003). Liver transplantation for propionic acidaemia in a 14-month-old male. Paediatr Anaesth, 13(6):554-6.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/12846721
F.534
Knerr, I., Weinhold, N., Vockley, J., & Gibson, K.M. (Jan 2012). Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects. J. Inherit. Metab. Dis., 35, 29-40. doi:10.1007/s10545-010-9269-1
F.3327
Komatsuzaki, S., Sakamoto, O., Fuse, N., Uematsu, M., Matsubara, Y., & Ohura, T. (Aug 2012). Clinical reasoning: a young man with progressive subcortical lesions and optic nerve atrophy. Neurology, 79, e63-8. doi:10.1212/WNL.0b013e3182648bb6
F.510
Kurczynski, T.W., Hoppel, C.L., Goldblatt, P.J., & Gunning, W.T. (Jul 1989). Metabolic studies of carnitine in a child with propionic acidemia. Pediatr. Res., 26, 63-6. doi:10.1203/00006450-198907000-00018
F.2963
Laemmle, A., Balmer, C., Doell, C., Sass, J.O., Häberle, J., & Baumgartner, M.R. (Jul 2014). Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy. Eur. J. Pediatr., 173, 971-4. doi:10.1007/s00431-014-2359-6
F.2967
Lam, C., Desviat, L.R., Perez-Cerdá, C., Ugarte, M., Barshop, B.A., & Cederbaum, S. (Aug 2011). 45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia?. Mol. Genet. Metab., 103, 338-40. doi:10.1016/j.ymgme.2011.04.007
F.2969
Langendonk, J.G., Roos, J.C., Angus, L., Williams, M., Karstens, F.P., de Klerk, J.B., Maritz, C., Ben-Omran, T., Williamson, C., Lachmann, R.H., & Murphy, E. (May 2012). A series of pregnancies in women with inherited metabolic disease. J. Inherit. Metab. Dis., 35, 419-24. doi:10.1007/s10545-011-9389-2
F.2982
Lévesque, S., Lambert, M., Karalis, A., Melancon, S., Russell, L., & Braverman, N. (2012). Short-term outcome of propionic aciduria treated at presentation with N-carbamylglutamate: a retrospective review of four patients. JIMD Rep, 2, 97-102. doi:10.1007/8904_2011_54
F.3491
Lee, P.J. (2006 Apr-Jun). Pregnancy issues in inherited metabolic disorders. J. Inherit. Metab. Dis., 29, 311-6. doi:10.1007/s10545-005-0252-1
F.517
Lehnert, W., Schuchmann, L., Urbánek, R., Niederhoff, H., & Böhm, N. (Jul 1978). Excretion of 2-methyl-3-oxovaleric acid in propionic acidemia. Eur. J. Pediatr., 128(3):197-205.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/668727
F.502
Lehnert, W., Sperl, W., Suormala, T., & Baumgartner, E.R. (1994). Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients. Eur. J. Pediatr., 153(7 Suppl 1):S68-80.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/7957390
F.550
Levrat, V., Forest, I., Fouilhoux, A., Acquaviva, C., Vianey-Saban, C., & Guffon, N. (Jan 2008). Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?. Orphanet J Rare Dis, 3, 2. doi:10.1186/1750-1172-3-2
F.3463
Li, M., Dick, A., Montenovo, M., Horslen, S., & Hansen, R. (Sep 2015). Cost-effectiveness of liver transplantation in methylmalonic and propionic acidemias. Liver Transpl., 21, 1208-18. doi:10.1002/lt.24173
F.572
Libert, R., Van Hoof, F., Thillaye, M., Vincent, M.F., Nassogne, M.C., de Hoffmann, E., & Schanck, A. (May 2000). Identification of undescribed medium-chain acylcarnitines present in urine of patients with propionic and methylmalonic acidemias. Clin. Chim. Acta, 295(1-2):87-96.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10767396
F.520
Lilliu, F. (Oct 2010). Treatment of organic acidurias and urea cycle disorders. J. Matern. Fetal. Neonatal. Med., 23 Suppl 3, 73-5. doi:10.3109/14767058.2010.509932
F.59
Mardach, R., Verity, M.A., & Cederbaum, S.D. (Aug 2005). Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy. Mol. Genet. Metab., 85, 286-90. doi:10.1016/j.ymgme.2005.04.004
F.248
Martín-Hernández, E., Lee, P.J., Micciche, A., Grunewald, S., & Lachmann, R.H. (Aug 2009). Long-term needs of adult patients with organic acidaemias: outcome and prognostic factors. J. Inherit. Metab. Dis., 32, 523-33. doi:10.1007/s10545-009-1191-12
F.601
Massoud, A.F., & Leonard, J.V. (May 1993). Cardiomyopathy in propionic acidaemia. Eur. J. Pediatr., 152(5):441-5.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8319715
F.603
Matsuishi, T., Stumpf, D.A., & Chrislip, K. (Oct 1991). The effect of malate on propionate mitochondrial toxicity. Biochem. Med. Metab. Biol., 46(2):177-84.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/1782009
F.3040
Mazariegos, G., Shneider, B., Burton, B., Fox, I.J., Hadzic, N., Kishnani, P., Morton, D.H., McIntire, S., Sokol, R.J., Summar, M., White, D., Chavanon, V., & Vockley, J. (Apr 2014). Liver transplantation for pediatric metabolic disease. Mol. Genet. Metab., 111, 418-27. doi:10.1016/j.ymgme.2014.01.006
F.541
Mc Guire, P.J., Parikh, A., & Diaz, G.A. (2009 Sep-Oct). Profiling of oxidative stress in patients with inborn errors of metabolism. Mol. Genet. Metab., 98, 173-80. doi:10.1016/j.ymgme.2009.06.007
F.561
Meissner, T., Leichsenring, M., & Mayatepek, E. (2004). Odd-numbered long-chain fatty acids in erythrocyte phospholipids as long-term follow-up parameter in propionic acidemia. Clin. Chem. Lab. Med., 42, 1005-8. doi:10.1515/CCLM.2004.203
F.573
Mellon, A.F., Deshpande, S.A., Mathers, J.C., & Bartlett, K. (Feb 2000). Effect of oral antibiotics on intestinal production of propionic acid. Arch. Dis. Child., 82(2):169-72.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10648377
F.543
Mizuguchi, K., Hoshino, H., Nagasawa, T., & Kubota, M. (Dec 2009). Extracorporeal membrane oxygenation in a patient with propionic acidaemia: a therapeutic option for cardiac failure. J. Inherit. Metab. Dis., 32 Suppl 1, S37-40. doi:10.1007/s10545-009-1029-8
F.465
Morioka, D., Kasahara, M., Takada, Y., Corrales, J.P., Yoshizawa, A., Sakamoto, S., Taira, K., Yoshitoshi, E.Y., Egawa, H., Shimada, H., & Tanaka, K. (Nov 2005). Living donor liver transplantation for pediatric patients with inheritable metabolic disorders. Am. J. Transplant., 5, 2754-63. doi:10.1111/j.1600-6143.2005.01084.x
F.466
Morioka, D., Takada, Y., Kasahara, M., Ito, T., Uryuhara, K., Ogawa, K., Egawa, H., & Tanaka, K. (Sep 2005). Living donor liver transplantation for noncirrhotic inheritable metabolic liver diseases: impact of the use of heterozygous donors. Transplantation, 80(5):623-8.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/16177636
F.586
Moyano, D., Vilaseca, M.A., Pineda, M., Campistol, J., Vernet, A., Póo, P., Artuch, R., & Sierra, C. (Jul 1997). Tocopherol in inborn errors of intermediary metabolism. Clin. Chim. Acta, 263(2):147-55.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/9246419
F.3070
Nagao, M., Tanaka, T., Morii, M., Wakai, S., Horikawa, R., & Kasahara, M. (Jan 2013). Improved neurologic prognosis for a patient with propionic acidemia who received early living donor liver transplantation. Mol. Genet. Metab., 108, 25-9. doi:10.1016/j.ymgme.2012.10.022
F.242
North, K.N., Korson, M.S., Gopal, Y.R., Rohr, F.J., Brazelton, T.B., Waisbren, S.E., & Warman, M.L. (Jun 1995). Neonatal-onset propionic acidemia: neurologic and developmental profiles, and implications for management. J. Pediatr., 126(6):916-22.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/7539836
F.3088
Noval, S., López-Rodríguez, M., González-Sánchez, E., Contreras, I., Royo, A., & Boto-De-los-Bueis, A. (Mar 2013). Late optic neuropathy in propionic acidemia following surgical intervention. J Neuroophthalmol, 33, 90-1. doi:10.1097/WNO.0b013e318273c03b
F.241
Ogier de Baulny, H. (Feb 2002). Management and emergency treatments of neonates with a suspicion of inborn errors of metabolism. Semin Neonatol, 7, 17-26. doi:10.1053/siny.2001.0084
F.526
Ogier de Baulny, H., & Saudubray, J.M. (Feb 2002). Branched-chain organic acidurias. Semin Neonatol, 7, 65-74. doi:10.1053/siny.2001.0087
F.596
Ozand, P.T., Rashed, M., Gascon, G.G., Youssef, N.G., Harfi, H., Rahbeeni, Z., al Garawi, S., & al Aqeel, A. (Nov 1994). Unusual presentations of propionic acidemia. Brain Dev., 16 Suppl:46-57.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/7726381
F.3109
Pagon, R.A., Adam, M.P., Ardinger, H.H., Wallace, S.E., Amemiya, A., Bean, L.J.H., Bird, T.D., Ledbetter, N., Mefford, H.C., Smith, R.J.H., & Stephens, K., (1993). GeneReviews(®). Seattle (WA): University of Washington, Seattle.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/22593918
F.3117
Pena, L., & Burton, B.K. (Jul 2012). Survey of health status and complications among propionic acidemia patients. Am. J. Med. Genet. A, 158A, 1641-6. doi:10.1002/ajmg.a.35387
F.3118
Pena, L., Franks, J., Chapman, K.A., Gropman, A., Ah Mew, N., Chakrapani, A., Island, E., MacLeod, E., Matern, D., Smith, B., Stagni, K., Sutton, V.R., Ueda, K., Urv, T., Venditti, C., Enns, G.M., & Summar, M.L. (Jan 2012). Natural history of propionic acidemia. Mol. Genet. Metab., 105, 5-9. doi:10.1016/j.ymgme.2011.09.022
G.67
Phyllis Acosta (Fall, 2004). Nutrition and the Organic Acidemias. Abbott.
F.255
Queen, P.M., Acosta, P.B., & Fernhoff, P.M. (1982). The effects of spacing protein intake on nitrogen balance and plasma amino acids in a child with propionic acidemia. J Am Coll Nutr, 1(3):305-8.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/7185861
F.256
Queen, P.M., Fernhoff, P.M., & Acosta, P.B. (Nov 1981). Protein and essential amino acid requirements in a child with propionic acidemia. J Am Diet Assoc, 79(5):562-5.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/7288063
F.599
Raby, R.B., Ward, J.C., & Herrod, H.G. (1994). Propionic acidaemia and immunodeficiency. J. Inherit. Metab. Dis., 17(2):250-1.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/7526032
F.3381
Rafique, M. (2013). Propionic acidaemia: demographic characteristics and complications. J. Pediatr. Endocrinol. Metab., 26, 497-501. doi:10.1515/jpem-2013-0031
F.3382
Rafique, M. (Apr 2014). Emerging trends in management of propionic acidemia. Arq Bras Endocrinol Metabol, 58(3):237-42.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/24863085
F.246
Rela, M., Battula, N., Madanur, M., Mieli-Vergani, G., Dhawan, A., Champion, M., Raiman, J., & Heaton, N. (Sep 2007). Auxiliary liver transplantation for propionic acidemia: a 10-year follow-up. Am. J. Transplant., 7, 2200-3. doi:10.1111/j.1600-6143.2007.01899.x
F.521
Ribas, G.S., Manfredini, V., de Marco, M.G., Vieira, R.B., Wayhs, C.Y., Vanzin, C.S., Biancini, G.B., Wajner, M., & Vargas, C.R. (Sep 2010). Prevention by L-carnitine of DNA damage induced by propionic and L-methylmalonic acids in human peripheral leukocytes in vitro. Mutat. Res., 702, 123-8. doi:10.1016/j.mrgentox.2010.07.008
F.443
Romano, S., Valayannopoulos, V., Touati, G., Jais, J.P., Rabier, D., de Keyzer, Y., Bonnet, D., & de Lonlay, P. (Jan 2010). Cardiomyopathies in propionic aciduria are reversible after liver transplantation. J. Pediatr., 156, 128-34. doi:10.1016/j.jpeds.2009.07.002
G.18
Ross Metabolic System (2001). Nutrition Support Protocols Ross Metabolic Formula System Abbott Labs 4th edition. Abbott Labs.
F.3477
Ruzkova, K., Weingarten, T.N., Larson, K.J., Friedhoff, R.J., Gavrilov, D.K., & Sprung, J. (Aug 2015). Anesthesia and organic aciduria: is the use of lactated Ringer's solution absolutely contraindicated?. Paediatr Anaesth, 25, 807-17. doi:10.1111/pan.12673
F.2779
Ryu, J., Shin, Y.H., Ko, J.S., Gwak, M.S., & Kim, G.S. (Sep 2013). Intractable metabolic acidosis in a child with propionic acidemia undergoing liver transplantation -a case report-. Korean J Anesthesiol, 65, 257-61. doi:10.4097/kjae.2013.65.3.257
G.114
S. Yannicelli (personal communication, July 28, 2015).
F.3073
Salmi, H., Leonard, J.V., & Lapatto, R. (Nov 2012). Patients with organic acidaemias have an altered thiol status. Acta Paediatr., 101, e505-8. doi:10.1111/j.1651-2227.2012.02799.x
F.3492
Sass, J.O., Hofmann, M., Skladal, D., Mayatepek, E., Schwahn, B., & Sperl, W. (2004 Nov-Dec). Propionic acidemia revisited: a workshop report. Clin Pediatr (Phila), 43, 837-43. doi:10.1177/000992280404300908
F.460
Sato, S., Kasahara, M., Fukuda, A., Mizuguchi, K., Nakagawa, S., Muguruma, T., Saito, O., Karaki, C., Nakagawa, A., Yoshii, K., & Horikawa, R. (Sep 2009). Liver transplantation in a patient with propionic acidemia requiring extra corporeal membrane oxygenation during severe metabolic decompensation. Pediatr Transplant, 13, 790-3. doi:10.1111/j.1399-3046.2008.01029.x
F.1387
Satoh, T., Narisawa, K., Tazawa, Y., Suzuki, H., Hayasaka, K., Tada, K., & Kawakami, T. (Apr 1983). Dietary therapy in a girl with propionic acidemia: supplement with leucine resulted in catch up growth. Tohoku J. Exp. Med., 139(4):411-5.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/6868077
F.514
Saudubray, J.M., Ogier, H., Charpentier, C., Depondt, E., Coudé, F.X., Munnich, A., Mitchell, G., Rey, F., Rey, J., & Frézal, J. (1984). Hudson memorial lecture. Neonatal management of organic acidurias. Clinical update. J. Inherit. Metab. Dis., 7 Suppl 1:2-9.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/6434839
F.495
Saudubray, J.M., Touati, G., Delonlay, P., Jouvet, P., Schlenzig, J., Narcy, C., Laurent, J., Rabier, D., Kamoun, P., Jan, D., & Revillon, Y. (Dec 1999). Liver transplantation in propionic acidaemia. Eur. J. Pediatr., 158 Suppl 2:S65-9.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10603102
F.597
Sbaï, D., Narcy, C., Thompson, G.N., Mariotti, A., Poggi, F., Saudubray, J.M., & Bresson, J.L. (Jun 1994). Contribution of odd-chain fatty acid oxidation to propionate production in disorders of propionate metabolism. Am. J. Clin. Nutr., 59(6):1332-7.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8198058
F.582
Schaefer, F., Straube, E., Oh, J., Mehls, O., & Mayatepek, E. (Apr 1999). Dialysis in neonates with inborn errors of metabolism. Nephrol. Dial. Transplant., 14(4):910-8.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10328469
F.594
Schlenzig, J.S., Poggi-Travert, F., Laurent, J., Rabier, D., Jan, D., Wendel, U., Sewell, A.C., Revillon, Y., Kamoun, P., & Saudubray, J.M. (1995). Liver transplantation in two cases of propionic acidaemia. J. Inherit. Metab. Dis., 18(4):448-61.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/7494403
F.3466
Schmeck, A., & Beilin, Y. (Nov 2014). Propionic acidemia in a parturient presenting for induction of labor. A A Case Rep, 3, 118-9. doi:10.1213/XAA.0000000000000077
F.544
Scholl-Bürgi, S., Haberlandt, E., Gotwald, T., Albrecht, U., Baumgartner Sigl, S., Rauchenzauner, M., Rostásy, K., & Karall, D. (Apr 2009). Stroke-like episodes in propionic acidemia caused by central focal metabolic decompensation. Neuropediatrics, 40, 76-81. doi:10.1055/s-0029-1231065
F.62
Scholl-Bürgi, S., Sass, J.O., Heinz-Erian, P., Amann, E., Haberlandt, E., Albrecht, U., Ertl, C., Sigl, S.B., Lagler, F., Rostasy, K., & Karall, D. (May 2010). Changes in plasma amino acid concentrations with increasing age in patients with propionic acidemia. Amino Acids, 38, 1473-81. doi:10.1007/s00726-009-0356-2
F.536
Scholl-Bürgi, S., Sass, J.O., Zschocke, J., & Karall, D. (Jan 2012). Amino acid metabolism in patients with propionic acidaemia. J. Inherit. Metab. Dis., 35, 65-70. doi:10.1007/s10545-010-9245-9
F.523
Schwahn, B.C., Pieterse, L., Bisset, W.M., Galloway, P.G., & Robinson, P.H. (Jan 2010). Biochemical efficacy of N-carbamylglutamate in neonatal severe hyperammonaemia due to propionic acidaemia. Eur. J. Pediatr., 169, 133-4. doi:10.1007/s00431-009-1036-7
F.3405
Siekmeyer, M., Petzold-Quinque, S., Terpe, F., Beblo, S., Gebhardt, R., Schlensog-Schuster, F., Kiess, W., & Siekmeyer, W. (2013). Citric acid as the last therapeutic approach in an acute life-threatening metabolic decompensation of propionic acidaemia. J. Pediatr. Endocrinol. Metab., 26, 569-74. doi:10.1515/jpem-2012-0148
F.458
Soyucen, E., Demirci, E., & Aydin, A. (Apr 2010). Outpatient treatment of propionic acidemia-associated hyperammonemia with N-carbamoyl-L-glutamate in an infant. Clin Ther, 32, 710-3. doi:10.1016/j.clinthera.2010.04.004
F.575
Sperl, W., Murr, C., Skladal, D., Sass, J.O., Suormala, T., Baumgartner, R., & Wendel, U. (2000 Jan-Feb). Odd-numbered long-chain fatty acids in propionic acidaemia. Eur. J. Pediatr., 159(1-2):54-8.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/10653330
F.503
Stanley, C.A., Berry, G.T., Bennett, M.J., Willi, S.M., Treem, W.R., & Hale, D.E. (Jul 1993). Renal handling of carnitine in secondary carnitine deficiency disorders. Pediatr. Res., 34, 89-97. doi:10.1203/00006450-199307000-00021
G.75
Stephen Kahler (June 2006). Pancreatitis in PROP. Metabol-L Listserv.
G.74
Stephen Kahler (May2007). Cardiomyopathy and PROP. Metab-L Listserv.
G.51
Steve Yannicelli (2010). Book: Nutrition Management of Patients with Inherited Metabolic Disorders Chapter 8. Book: Nutrition Management of Patients with Inherited Metabolic Disorders. Phyllis Acosta, editor.
F.530
Sugiyama, N., Kidouchi, K., Kobayashi, M., & Wada, Y. (Aug 1990). Carnitine deficiency in inherited organic acid disorders and Reye syndrome. Acta Paediatr Jpn, 32(4):410-6.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/2288224
F.484
Surtees, R.A., Matthews, E.E., & Leonard, J.V. (1992 Sep-Oct). Neurologic outcome of propionic acidemia. Pediatr. Neurol., 8(5):333-7.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/1418175
G.70
Susan Winters (October 2002). Carnitine Treatment. Valley Childrens Medical Center.
G.65
Susan Winters, MD (Fall 2004). Carnitine Therapy in Fatty Acid Oxidation Defects and Organic Acidemias. .
F.3403
Sutton, V.R., Chapman, K.A., Gropman, A.L., MacLeod, E., Stagni, K., Summar, M.L., Ueda, K., Ah Mew, N., Franks, J., Island, E., Matern, D., Peña, L., Smith, B., Urv, T., Venditti, C., & Chakarapani, A. (Jan 2012). Chronic management and health supervision of individuals with propionic acidemia. Mol. Genet. Metab., 105, 26-33. doi:10.1016/j.ymgme.2011.08.034
F.487
Tabanlioğlu, D., Ersoy-Evans, S., & Karaduman, A. (2009 Mar-Apr). Acrodermatitis enteropathica-like eruption in metabolic disorders: acrodermatitis dysmetabolica is proposed as a better term. Pediatr Dermatol, 26, 150-4. doi:10.1111/j.1525-1470.2008.00803.x
F.555
Talbot, J.C., Gummerson, N.W., Kluge, W., Shaw, D.L., Groves, C., & Lealman, G.T. (Jul 2006). Osteoporotic femoral fracture in a child with propionic acidaemia presenting as non-accidental injury. Eur. J. Pediatr., 165, 496-7. doi:10.1007/s00431-006-0089-0
F.490
Tavil, B., Sivri, H.S., Coskun, T., Gurgey, A., Ozyurek, E., Dursun, A., Tokatli, A., Altay, C., & Gumruk, F. (Oct 2006). Haematological findings in children with inborn errors of metabolism. J. Inherit. Metab. Dis., 29, 607-11. doi:10.1007/s10545-006-0379-8
F.251
Thomas, E. (Nov 1994). A study of the response to protein-modified diets for propionic acidemia in twelve patients. Brain Dev., 16 Suppl:58-63.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/7726382
F.507
Thompson, G.N., & Chalmers, R.A. (Apr 1990). Increased urinary metabolite excretion during fasting in disorders of propionate metabolism. Pediatr. Res., 27, 413-6. doi:10.1203/00006450-199004000-00021
F.505
Thompson, G.N., Chalmers, R.A., Walter, J.H., Bresson, J.L., Lyonnet, S.L., Reed, P.J., Saudubray, J.M., Leonard, J.V., & Halliday, D. (Aug 1990). The use of metronidazole in management of methylmalonic and propionic acidaemias. Eur. J. Pediatr., 149(11):792-6.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/2226555
F.56
Touati, G., Valayannopoulos, V., Mention, K., de Lonlay, P., Jouvet, P., Depondt, E., Assoun, M., Souberbielle, J.C., Rabier, D., Ogier de Baulny, H., & Saudubray, J.M. (2006 Apr-Jun). Methylmalonic and propionic acidurias: management without or with a few supplements of specific amino acid mixture. J. Inherit. Metab. Dis., 29, 288-98. doi:10.1007/s10545-006-0351-7
F.548
Tuchman, M., Caldovic, L., Daikhin, Y., Horyn, O., Nissim, I., Nissim, I., Korson, M., Burton, B., & Yudkoff, M. (Aug 2008). N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers. Pediatr. Res., 64, 213-7. doi:10.1203/PDR.0b013e318179454b
F.60
Van Calcar, S.C., Harding, C.O., Davidson, S.R., Barness, L.A., & Wolff, J.A. (Nov 1992). Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidemia. Am. J. Med. Genet., 44, 641-6. doi:10.1002/ajmg.1320440523
F.249
van der Meer, S.B., Poggi, F., Spada, M., Bonnefont, J.P., Ogier, H., Hubert, P., Depondt, E., Rapoport, D., Rabier, D., Charpentier, C., Parvy, P., Bardet, J., Kamoun, P., & Saudubray, J.M. (Mar 1996). Clinical outcome and long-term management of 17 patients with propionic acidaemia. Eur. J. Pediatr., 155(3):205-10.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/8929729
F.439
Van Gosen, L. (Jun 2008). Organic acidemias: a methylmalonic and propionic focus. J Pediatr Nurs, 23, 225-33. doi:10.1016/j.pedn.2008.02.004
F.3221
Vara, R., Turner, C., Mundy, H., Heaton, N.D., Rela, M., Mieli-Vergani, G., Champion, M., & Hadzic, N. (Jun 2011). Liver transplantation for propionic acidemia in children. Liver Transpl., 17, 661-7. doi:10.1002/lt.22279
F.435
Vlaardingerbroek, H., Hornstra, G., de Koning, T.J., Smeitink, J.A., Bakker, H.D., de Klerk, H.B., & Rubio-Gozalbo, M.E. (Jun 2006). Essential polyunsaturated fatty acids in plasma and erythrocytes of children with inborn errors of amino acid metabolism. Mol. Genet. Metab., 88, 159-65. doi:10.1016/j.ymgme.2006.01.012
F.252
Walter, J.H., Leonard, J.V., Thompson, G.N., & Halliday, D. (Aug 1990). Parenteral nutrition in propionic acidemia and methylmalonic acidemia. J. Pediatr., 117(2 Pt 1):338-9.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/2116511
F.3252
Westrope, C., Morris, K., Burford, D., & Morrison, G. (Sep 2010). Continuous hemofiltration in the control of neonatal hyperammonemia: a 10-year experience. Pediatr. Nephrol., 25, 1725-30. doi:10.1007/s00467-010-1549-3
G.17
William Nyhan, Bruce Barshop, Pinar Ozand (2005). Atlas of Metabolic Diseases. University of California San Diego, King Faisal Specials Hospital and Research Center Riyadh Saudi Arabia.
F.3264
Winter, S., Birek, L., Walker, T., Phalin-Roque, J., Chandler, M.J., Field, C., & Zorn, E. (1999). Therapy of metabolic disorders with intravenous (IV) access ports and long term intravenous L-carnitine therapy. Southeast Asian J. Trop. Med. Public Health, 30 Suppl 2:152-3.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/11400757
F.486
Wolf, B. (Dec 1980). Reassessment of biotin-responsiveness in "unresponsive" propionyl CoA carboxylase deficiency. J. Pediatr., 97(6):964-6.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/7441430
F.58
Yannicelli, S. (2006 Apr-Jun). Nutrition therapy of organic acidaemias with amino acid-based formulas: emphasis on methylmalonic and propionic acidaemia. J. Inherit. Metab. Dis., 29, 281-7. doi:10.1007/s10545-006-0267-2
F.55
Yannicelli, S., Acosta, P.B., Velazquez, A., Bock, H.G., Marriage, B., Kurczynski, T.W., Miller, M., Korson, M., Steiner, R.D., Rutledge, L., Bernstein, L., Chinsky, J., Galvin-Parton, P., & Arnold, G.L. (2003 Sep-Oct). Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food. Mol. Genet. Metab., 80(1-2):181-8.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/14567967
F.504
Yannicelli, S., Hambidge, K.M., & Picciano, M.F. (1992). Decreased selenium intake and low plasma selenium concentrations leading to clinical symptoms in a child with propionic acidaemia. J. Inherit. Metab. Dis., 15(2):261-8.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/1527993
F.562
Yorifuji, T., Kawai, M., Mamada, M., Kurokawa, K., Egawa, H., Shigematsu, Y., Kohno, Y., Tanaka, K., & Nakahata, T. (2004). Living-donor liver transplantation for propionic acidaemia. J. Inherit. Metab. Dis., 27, 205-10. doi:10.1023/B:BOLI.0000028778.54210.13
F.469
Yorifuji, T., Muroi, J., Uematsu, A., Nakahata, T., Egawa, H., & Tanaka, K. (Oct 2000). Living-related liver transplantation for neonatal-onset propionic acidemia. J. Pediatr., 137, 572-4. doi:10.1067/mpd.2000.108391
F.607
Yoshino, M., Aramaki, S., Yamashita, F., Sato, K., Inoue, Y., Kuhara, T., & Matsumoto, I. (1991). Erythematous skin lesions and partial deficiency of 3-methylcrotonyl-CoA carboxylase in peripheral lymphocytes in a patient with propionic acidaemia. J. Inherit. Metab. Dis., 14(5):839-40.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/1779636
F.3314
Zwickler, T., Riderer, A., Haege, G., Hoffmann, G.F., Kölker, S., & Burgard, P. (Jan 2014). Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia. J. Inherit. Metab. Dis., 37, 31-7. doi:10.1007/s10545-013-9621-3

Reference Materials

ID Reference
L.289
Amaral, A.U., Cecatto, C., Castilho, R.F., & Wajner, M. (Apr 2016). 2-Methylcitric acid impairs glutamate metabolism and induces permeability transition in brain mitochondria. J. Neurochem., 137, 62-75. doi:10.1111/jnc.13544
L.294
Arrizza, C., De Gottardi, A., Foglia, E., Baumgartner, M., Gautschi, M., & Nuoffer, J.M. (Dec 2015). Reversal of cardiomyopathy in propionic acidemia after liver transplantation: a 10-year follow-up. Transpl. Int., 28, 1447-50. doi:10.1111/tri.12677
L.286
Belenguer, A., Duncan, S.H., Holtrop, G., Anderson, S.E., Lobley, G.E., & Flint, H.J. (Oct 2007). Impact of pH on lactate formation and utilization by human fecal microbial communities. Appl. Environ. Microbiol., 73, 6526-33. doi:10.1128/AEM.00508-07
L.292
Darvish-Damavandi, M., Ho, H.K., & Kang, T.S. (Sep 2016). Towards the development of an enzyme replacement therapy for the metabolic disorder propionic acidemia. Mol Genet Metab Rep, 8, 51-60. doi:10.1016/j.ymgmr.2016.06.009
Y.15
Food and Nutrition Board Institute of Medicine, (2005). Protein and Amino acids. Food and Nutrition Board Institute of Medicine, The National Academies Press, Washington D.C.
L.291
Frye, R.E., Rose, S., Chacko, J., Wynne, R., Bennuri, S.C., Slattery, J.C., Tippett, M., Delhey, L., Melnyk, S., Kahler, S.G., & MacFabe, D.F. (Oct 2016). Modulation of mitochondrial function by the microbiome metabolite propionic acid in autism and control cell lines. Transl Psychiatry, 6, e927. doi:10.1038/tp.2016.189
L.290
Gallego-Villar, L., Rivera-Barahona, A., Cuevas-Martín, C., Guenzel, A., Pérez, B., Barry, M.A., Murphy, M.P., Logan, A., Gonzalez-Quintana, A., Martín, M.A., Medina, S., Gil-Izquierdo, A., Cuezva, J.M., Richard, E., & Desviat, L.R. (Jul 2016). In vivo evidence of mitochondrial dysfunction and altered redox homeostasis in a genetic mouse model of propionic acidemia: Implications for the pathophysiology of this disorder. Free Radic. Biol. Med., 96, 1-12. doi:10.1016/j.freeradbiomed.2016.04.007
Y.14
Institute of Medicine (US) and National Research Council (US) Committee ; Rasmussen KM, Yaktine AL, editors. (2009). Weight Gain During Pregnancy: Reexamining the Guidelines.. Institute of Medicine (US) and National Research Council (US) Committee.
L.285
Knol, J., Scholtens, P., Kafka, C., Steenbakkers, J., Gro, S., Helm, K., Klarczyk, M., Schöpfer, H., Böckler, H.M., & Wells, J. (Jan 2005). Colon microflora in infants fed formula with galacto- and fructo-oligosaccharides: more like breast-fed infants. J. Pediatr. Gastroenterol. Nutr., 40(1):36-42.
Retrieved from http://www.ncbi.nlm.nih.gov/pubmed/15625424
L.295
Manoli, I., Myles, J.G., Sloan, J.L., Shchelochkov, O.A., & Venditti, C.P. (Apr 2016). A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias. Genet. Med., 18, 386-95. doi:10.1038/gim.2015.102
L.283
Murphy, E. (Jul 2015). Medical Problems in Obstetrics: Inherited Metabolic Disease. Best Pract Res Clin Obstet Gynaecol, 29, 707-20. doi:10.1016/j.bpobgyn.2015.04.006
Y.16
Saudubray J-M, Baumgartner MR, Walter J (Eds) (2016). Inborn Metabolic Diseases Diagnosis and Treatment 6th edition.. springer.
L.293
Valayannopoulos, V., Baruteau, J., Delgado, M.B., Cano, A., Couce, M.L., Del Toro, M., Donati, M.A., Garcia-Cazorla, A., Gil-Ortega, D., Gomez-de Quero, P., Guffon, N., Hofstede, F.C., Kalkan-Ucar, S., Coker, M., Lama-More, R., Martinez-Pardo Casanova, M., Molina, A., Pichard, S., Papadia, F., Rosello, P., Plisson, C., Le Mouhaer, J., & Chakrapani, A. (Mar 2016). Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study. Orphanet J Rare Dis, 11, 32. doi:10.1186/s13023-016-0406-2
© 2006-2015   —   SOUTHEAST REGIONAL GENETICS NETWORK   —   A HRSA SUPPORTED PARTNERSHIP   —   GRANT #UH7MC30772