Management
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UCD Nutrition Management Guidelines
First Edition
April 2026, v.1.3
Updated: April 2026
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References

Analyzed Literature
ID Reference
F.4514
Adam, S., Almeida, M.F., Assoun, M., Baruteau, J., Bernabei, S.M., Bigot, S., Champion, H., Daly, A., Dassy, M., Dawson, S., Dixon, M., Dokoupil, K., Dubois, S., Dunlop, C., Evans, S., Eyskens, F., Faria, A., Favre, E., Ferguson, C., Goncalves, C., Gribben, J., Heddrich-Ellerbrok, M., Jankowski, C., Janssen-Regelink, R., Jouault, C., Laguerre, C., Le Verge, S., Link, R., Lowry, S., Luyten, K., Macdonald, A., Maritz, C., McDowell, S., Meyer, U., Micciche, A., Robert, M., Robertson, L.V., Rocha, J.C., Rohde, C., Saruggia, I., Sjoqvist, E., Stafford, J., Terry, A., Thom, R., Vande Kerckhove, K., van Rijn, M., van Teeffelen-Heithoff, A., Wegberg, A.v., van Wyk, K., Vasconcelos, C., Vestergaard, H., Webster, D., White, F.J., Wildgoose, J., & Zweers, H. (Dec 2013). Dietary management of urea cycle disorders: European practice. Mol Genet Metab, 110, 439-45. doi:10.1016/j.ymgme.2013.09.003
F.7965
Additional individual contributors from E-IMD, Molema, F., Gleich, F., Burgard, P., van der Ploeg, A.T., Summar, M.L., Chapman, K.A., Barić, I., Lund, A.M., Kölker, S., & Williams, M. (Nov 2019). Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry. J Inherit Metab Dis, 42, 1162-1175. doi:10.1002/jimd.12066
F.7964
Additional individual contributors from E-IMD, Molema, F., Gleich, F., Burgard, P., van der Ploeg, A.T., Summar, M.L., Chapman, K.A., Lund, A.M., Rizopoulos, D., Kölker, S., & Williams, M. (Apr 2019). Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment. Mol Genet Metab, 126, 397-405. doi:10.1016/j.ymgme.2019.02.003
F.4803
Additional individual contributors of the E-IMD consortium, Posset, R., Garcia-Cazorla, A., Valayannopoulos, V., Teles, E.L., Dionisi-Vici, C., Brassier, A., Burlina, A.B., Burgard, P., Cortès-Saladelafont, E., Dobbelaere, D., Couce, M.L., Sykut-Cegielska, J., Häberle, J., Lund, A.M., Chakrapani, A., Schiff, M., Walter, J.H., Zeman, J., Vara, R., & Kölker, S. (Sep 2016). Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders. J Inherit Metab Dis, 39, 661-672. doi:10.1007/s10545-016-9938-9
F.5156
Ah Mew, N., McCarter, R., Daikhin, Y., Lichter-Konecki, U., Nissim, I., Yudkoff, M., & Tuchman, M. (Aug 2014). Augmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1 deficiency with N-carbamyl-L-glutamate. J Pediatr, 165, 401-403.e3. doi:10.1016/j.jpeds.2014.04.012
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Akyol, Ş., Yılmaz, Ş., Tüfekçi, Ö., Arslan, N., & Ören, H. (Dec 2022). A complication of lysinuric protein intolerance: Intermittent haemophagocytic lymphohistiocytosis. J Paediatr Child Health, 58, 2300-2301. doi:10.1111/jpc.16158
F.5177
Alameri, M., Shakra, M., & Alsaadi, T. (Nov 2015). Fatal coma in a young adult due to late-onset urea cycle deficiency presenting with a prolonged seizure: a case report. J Med Case Rep, 9, 267. doi:10.1186/s13256-015-0741-2
F.5203
Anadiotis, G., Ierardi-Curto, L., Kaplan, P.B., & Berry, G.T. (Jan 2001). Ornithine transcarbamylase deficiency and pancreatitis. J Pediatr, 138, 123-4. doi:10.1067/mpd.2001.109792
F.5219
Aoki, M., Fukao, T., Fujita, Y., Watanabe, M., Teramoto, T., Kato, Y., Suzuki, Y., & Kondo, N. (Aug 2001). Lysinuric protein intolerance in siblings: complication of systemic lupus erythematosus in the elder sister. Eur J Pediatr, 160, 522-3. doi:10.1007/pl00008455
F.5232
Arn, P.H., Hauser, E.R., Thomas, G.H., Herman, G., Hess, D., & Brusilow, S.W. (Jun 1990). Hyperammonemia in women with a mutation at the ornithine carbamoyltransferase locus. A cause of postpartum coma. N Engl J Med, 322, 1652-5. doi:10.1056/NEJM199006073222307
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Aronson, P.L., & Mistry, R.D. (Jun 2011). Ornithine transcarbamylase deficiency presenting as hepatitis. Pediatr Emerg Care, 27, 527-9. doi:10.1097/PEC.0b013e31821d86c1
F.5255
Avdjieva-Tzavella, D.M., Ivanova, M.B., Todorov, T.P., Todorova, A.P., Panteleeva, E.I., Tincheva, S.S., Lazarova, E.A., Kathom, H.M., Yaneva, P.G., & Tincheva, R.S. (2014). First Bulgarian case of citrin deficiency caused by one novel and one recurrent mutation in the SLC25A13 gene. Genet Couns, 25(3):271-6.
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F.5271
Bachmann, C. (Jun 2003). Outcome and survival of 88 patients with urea cycle disorders: a retrospective evaluation. Eur J Pediatr, 162, 410-6. doi:10.1007/s00431-003-1188-9
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Baertling, F., Wagner, M., Brunet, T., Sabir, H., Wieczorek, D., Meitinger, T., Meissner, T., & Distelmaier, F. (Mar 2020). Fatal metabolic decompensation in carbonic anhydrase VA deficiency despite early treatment and control of hyperammonemia. Genet Med, 22, 654-655. doi:10.1038/s41436-019-0677-9
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Bailly, P., Noury, J.B., Timsit, S., & Ben Salem, D. (Nov 2015). Teaching NeuroImages: Ornithine transcarbamylase deficiency revealed by a coma in a pregnant woman. Neurology, 85, e146-7. doi:10.1212/WNL.0000000000002131
F.5290
Bakhiet, M., AlAwadi, A.M.I., AlHammadi, M.M., Ali, M.F., & Butti, N. (May 2018). A case report of neurological complications owing to lately diagnosed hyperargininemia emphasizing the role of national neonatal screening policies in the kingdom of Bahrain. Medicine (Baltimore), 97, e10780. doi:10.1097/MD.0000000000010780
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Bakirtzis, C., Smyrni, N., Afrantou, T., Boziki, M.K., & Grigoriadis, N. (Sep 2021). Spastic gait, intellectual disability and seizures due to a rare mutation causing hyperargininemia. Clin Neurol Neurosurg, 208, 106895. doi:10.1016/j.clineuro.2021.106895
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Ban, K., Sugiyama, N., Sugiyama, K., Wada, Y., Suzuki, T., Hashimoto, T., & Kobayashi, K. (May 2001). A pediatric patient with classical citrullinemia who underwent living-related partial liver transplantation. Transplantation, 71, 1495-7. doi:10.1097/00007890-200105270-00026
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Baranello, G., Alfei, E., Martinelli, D., Rizzetto, M., Cazzaniga, F., Dionisi-Vici, C., Gellera, C., & Castellotti, B. (Sep 2014). Hyperargininemia: 7-month follow-up under sodium benzoate therapy in an Italian child presenting progressive spastic paraparesis, cognitive decline, and novel mutation in ARG1 gene. Pediatr Neurol, 51, 430-3. doi:10.1016/j.pediatrneurol.2014.05.029
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Baruteau, J., Jameson, E., Morris, A.A., Chakrapani, A., Santra, S., Vijay, S., Kocadag, H., Beesley, C.E., Grunewald, S., Murphy, E., Cleary, M., Mundy, H., Abulhoul, L., Broomfield, A., Lachmann, R., Rahman, Y., Robinson, P.H., MacPherson, L., Foster, K., Chong, W.K., Ridout, D.A., Bounford, K.M., Waddington, S.N., Mills, P.B., Gissen, P., & Davison, J.E. (May 2017). Expanding the phenotype in argininosuccinic aciduria: need for new therapies. J Inherit Metab Dis, 40, 357-368. doi:10.1007/s10545-017-0022-x
F.5334
Batshaw, M.L., Brusilow, S., Waber, L., Blom, W., Brubakk, A.M., Burton, B.K., Cann, H.M., Kerr, D., Mamunes, P., Matalon, R., Myerberg, D., & Schafer, I.A. (Jun 1982). Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion. N Engl J Med, 306, 1387-92. doi:10.1056/NEJM198206103062303
F.5525
Batshaw, M.L., Msall, M., Beaudet, A.L., & Trojak, J. (Feb 1986). Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency. J Pediatr, 108, 236-41. doi:10.1016/s0022-3476(86)80989-1
F.4594
Bélanger-Quintana, A., Arrieta Blanco, F., Barrio-Carreras, D., Bergua Martínez, A., Cañedo Villarroya, E., García-Silva, M.T., Lama More, R., Martín-Hernández, E., López, A.M., Morales-Conejo, M., Pedrón-Giner, C., Quijada-Fraile, P., Stanescu, S., & Casanova, M.M. (Jul 2022). Recommendations for the Diagnosis and Therapeutic Management of Hyperammonaemia in Paediatric and Adult Patients. Nutrients, 14, . doi:10.3390/nu14132755
F.4597
Bölsterli, B.K., Boltshauser, E., Palmieri, L., Spenger, J., Brunner-Krainz, M., Distelmaier, F., Freisinger, P., Geis, T., Gropman, A.L., Häberle, J., Hentschel, J., Jeandidier, B., Karall, D., Keren, B., Klabunde-Cherwon, A., Konstantopoulou, V., Kottke, R., Lasorsa, F.M., Makowski, C., Mignot, C., O'Gorman Tuura, R., Porcelli, V., Santer, R., Sen, K., Steinbrücker, K., Syrbe, S., Wagner, M., Ziegler, A., Zöggeler, T., Mayr, J.A., Prokisch, H., & Wortmann, S.B. (Aug 2022). Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier. Nutrients, 14, . doi:10.3390/nu14173605
F.4598
Bösch, F., Landolt, M.A., Baumgartner, M.R., Zeltner, N., Kölker, S., Gleich, F., Burlina, A., Cazzorla, C., Packman, W., V D Schwartz, I., Vieira Neto, E., Ribeiro, M.G., Martinelli, D., Olivieri, G., & Huemer, M. (Jan 2021). Health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism: Analysis of an international data set. J Inherit Metab Dis, 44, 215-225. doi:10.1002/jimd.12301
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Büyüktortop, N., Alp, M.N., Sivri, S., Coşkun, T., & Kural, G. (2011). Gyrate atrophy of the choroid and retina: a case report. Turk J Pediatr, 53(1):94-6.
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Beck, N.M., Johnston, J.P., Lemke, K.S., Pogacar, P., & Phornphutkul, C. (May 2011). Rhode Island metabolic newborn screening: the effect of early identification. A case report of argininosuccinic aciduria (ASA). Med Health R I, 94(5):121-3.
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F.4649
Bell, L., McInnes, R.R., Arshinoff, S.A., & McCulloch, J.C. (Aug 1981). Dietary treatment of hyperornithinemia in gyrate atrophy. J Am Diet Assoc, 79(2):139-44.
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Ben-Ari, Z., Dalal, A., Morry, A., Pitlik, S., Zinger, P., Cohen, J., Fattal, I., Galili-Mosberg, R., Tessler, D., Baruch, R.G., Nuoffer, J.M., Largiader, C.R., & Mandel, H. (Feb 2010). Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins' diet. J Hepatol, 52, 292-5. doi:10.1016/j.jhep.2009.11.014
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Bennett, E.E., Hummel, K., Smith, A.G., & Longo, N. (Jan 2019). Acute Presentation and Management of the Encephalopathic Child With an Undiagnosed Inborn Error of Metabolism. J Emerg Med, 56, e5-e8. doi:10.1016/j.jemermed.2018.09.037
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Bergmann, K.R., McCabe, J., Smith, T.R., Guillaume, D.J., Sarafoglou, K., & Gupta, S. (Apr 2014). Late-onset ornithine transcarbamylase deficiency: treatment and outcome of hyperammonemic crisis. Pediatrics, 133, e1072-6. doi:10.1542/peds.2013-1324
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Berry, G.T., & Steiner, R.D. (Jan 2001). Long-term management of patients with urea cycle disorders. J Pediatr, 138, S56-60; discussion S60-1. doi:10.1067/mpd.2001.111837
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Berry, S.A., Lichter-Konecki, U., Diaz, G.A., McCandless, S.E., Rhead, W., Smith, W., Lemons, C., Nagamani, S.C., Coakley, D.F., Mokhtarani, M., Scharschmidt, B.F., & Lee, B. (May 2014). Glycerol phenylbutyrate treatment in children with urea cycle disorders: pooled analysis of short and long-term ammonia control and outcomes. Mol Genet Metab, 112, 17-24. doi:10.1016/j.ymgme.2014.02.007
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Berson, E.L., Hanson, A.H., Rosner, B., & Shih, V.E. (1982). A two year trial of low protein, low arginine diets or vitamin B6 for patients with gyrate atrophy. Birth Defects Orig Artic Ser, 18(6):209-18.
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Berson, E.L., Shih, V.E., & Sullivan, P.L. (Apr 1981). Ocular findings in patients with gyrate atrophy on pyridoxine and low-protein, low-arginine diets. Ophthalmology, 88, 311-5. doi:10.1016/s0161-6420(81)35029-5
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Bijarnia-Mahay, S., Jain, V., Bansal, R.K., Reddy, G.M., & Haberle, J. (Aug 2016). Lysinuric Protein Intolerance Presenting with Recurrent Hyperammonemic Encephalopathy. Indian Pediatr, 53, 732-4. doi:10.1007/s13312-016-0920-2
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Bilgin, L., Unal, S., Gunduz, M., Uncu, N., & Tiryaki, T. (Jul 2014). Utility of peritoneal dialysis in neonates affected by inborn errors of metabolism. J Paediatr Child Health, 50, 531-5. doi:10.1111/jpc.12510
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Bin Sawad, A., Jackimiec, J., Bechter, M., Hull, M., Yeaw, J., Wang, Y., & Diaz, G.A. (2022). Health care resource utilization in the management of patients with Arginase 1 Deficiency in the US: a retrospective, observational, claims database study. J Med Econ, 25, 848-856. doi:10.1080/13696998.2022.2089517
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Bin Sawad, A., Jackimiec, J., Bechter, M., Trucillo, A., Lindsley, K., Bhagat, A., Uyei, J., & Diaz, G.A. (2022). Epidemiology, methods of diagnosis, and clinical management of patients with arginase 1 deficiency (ARG1-D): A systematic review. Mol Genet Metab, 137, 153-163. doi:10.1016/j.ymgme.2022.08.005
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Blair, N.F., Cremer, P.D., & Tchan, M.C. (Feb 2015). Urea cycle disorders: a life-threatening yet treatable cause of metabolic encephalopathy in adults. Pract Neurol, 15, 45-8. doi:10.1136/practneurol-2014-000916
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Boles, R.G., & Stone, M.L. (Dec 2006). A patient with arginase deficiency and episodic hyperammonemia successfully treated with menses cessation. Mol Genet Metab, 89, 390-1. doi:10.1016/j.ymgme.2006.07.012
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Brambilla, A., Bianchi, M.L., Cancello, R., Galimberti, C., Gasperini, S., Pretese, R., Rigoldi, M., Tursi, S., & Parini, R. (Nov 2019). Resting energy expenditure in argininosuccinic aciduria and in other urea cycle disorders. J Inherit Metab Dis, 42, 1105-1117. doi:10.1002/jimd.12108
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Branov J (2021) Vancouver General Hospital Adult Metabolic Clinic Urea Cycle Disorders Protocol for Dietitians. Adult Metabolic Diseases Clinic, Vancouver BC.
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Brassier, A., Gobin, S., Arnoux, J.B., Valayannopoulos, V., Habarou, F., Kossorotoff, M., Servais, A., Barbier, V., Dubois, S., Touati, G., Barouki, R., Lesage, F., Dupic, L., Bonnefont, J.P., Ottolenghi, C., & De Lonlay, P. (May 2015). Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients. Orphanet J Rare Dis, 10, 58. doi:10.1186/s13023-015-0266-1
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Cai, X., Yu, D., Xie, Y., & Zhou, H. (Feb 2018). Argininemia as a cause of severe chronic stunting and partial growth hormone deficiency (PGHD): A case report. Medicine (Baltimore), 97, e9880. doi:10.1097/MD.0000000000009880
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Caldovic, L., Morizono, H., Daikhin, Y., Nissim, I., McCarter, R.J., Yudkoff, M., & Tuchman, M. (Oct 2004). Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate. J Pediatr, 145, 552-4. doi:10.1016/j.jpeds.2004.06.047
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Canadian Inherited Metabolic Diseases Research Network (CIMDRN), Siddiq, S., Wilson, B.J., Graham, I.D., Lamoureux, M., Khangura, S.D., Tingley, K., Tessier, L., Chakraborty, P., Coyle, D., Dyack, S., Gillis, J., Greenberg, C., Hayeems, R.Z., Jain-Ghai, S., Kronick, J.B., Laberge, A.M., Little, J., Mitchell, J.J., Prasad, C., Siriwardena, K., Sparkes, R., Speechley, K.N., Stockler, S., Trakadis, Y., Wafa, S., Walia, J., Wilson, K., Yuskiv, N., & Potter, B.K. (Dec 2016). Experiences of caregivers of children with inherited metabolic diseases: a qualitative study. Orphanet J Rare Dis, 11, 168. doi:10.1186/s13023-016-0548-2
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Cavicchi, C., Chilleri, C., Fioravanti, A., Ferri, L., Ripandelli, F., Costa, C., Calabresi, P., Prontera, P., Pochiero, F., Pasquini, E., Funghini, S., la Marca, G., Donati, M.A., & Morrone, A. (Jan 2018). Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature. Int J Mol Sci, 19, . doi:10.3390/ijms19020345
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Cavicchi, C., Donati, M., Parini, R., Rigoldi, M., Bernardi, M., Orfei, F., Gentiloni Silveri, N., Colasante, A., Funghini, S., Catarzi, S., Pasquini, E., la Marca, G., Mooney, S., Guerrini, R., & Morrone, A. (Jul 2014). Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment. Orphanet J Rare Dis, 9, 105. doi:10.1186/s13023-014-0105-9
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Cazzorla, C., Del Rizzo, M., Burgard, P., Zanco, C., Bordugo, A., Burlina, A.B., & Burlina, A.P. (May 2012). Application of the WHOQOL-100 for the assessment of quality of life of adult patients with inherited metabolic diseases. Mol Genet Metab, 106, 25-30. doi:10.1016/j.ymgme.2012.02.008
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Cederbaum, J.A., LeMons, C., Rosen, M., Ahrens, M., Vonachen, S., & Cederbaum, S.D. (Jan 2001). Psychosocial issues and coping strategies in families affected by urea cycle disorders. J Pediatr, 138, S72-80. doi:10.1067/mpd.2001.111839
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Celik, M., Akdeniz, O., & Ozgun, N. (Mar 2019). Efficacy of peritoneal dialysis in neonates presenting with hyperammonaemia due to urea cycle defects and organic acidaemia. Nephrology (Carlton), 24, 330-335. doi:10.1111/nep.13224
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Chen, C.Y., Tsai, T.C., Lee, W.J., & Chen, H.C. (2007). Aminograms during continuous hemodiafiltration in the treatment of hyperammonemia due to ornithine transcarbamylase deficiency. Ren Fail, 29, 661-5. doi:10.1080/08860220701459618
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Chew, H.B., Ngu, L.H., Zabedah, M.Y., Keng, W.T., Balasubramaniam, S., Hanifah, M.J., & Kobayashi, K. (Dec 2010). Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients. J Inherit Metab Dis, 33 Suppl 3, S489-95. doi:10.1007/s10545-010-9248-6
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Choi, D.E., Lee, K.W., Shin, Y.T., & Na, K.R. (May 2012). Hyperammonemia in a patient with late-onset ornithine carbamoyltransferase deficiency. J Korean Med Sci, 27, 556-9. doi:10.3346/jkms.2012.27.5.556
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Choi, J.J., Kim, H.S., Lee, K.C., Shin, Y., & Jo, Y.Y. (Oct 2016). Anesthetic experience of an adult male with citrullinemia type II: a case report. BMC Anesthesiol, 16, 92. doi:10.1186/s12871-016-0253-7
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Choi, Y., Oh, A., Lee, Y., Kim, G.H., Choi, J.H., Yoo, H.W., & Lee, B.H. (Feb 2022). Unfavorable clinical outcomes in patients with carbamoyl phosphate synthetase 1 deficiency. Clin Chim Acta, 526, 55-61. doi:10.1016/j.cca.2021.11.029
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Christopher, R., Babu, S.V., & Shetty, K.T. (Jul 1999). Hyperornithinaemia associated with gyrate atrophy of the choroid and retina: two cases from India. Ann Clin Biochem, 36 ( Pt 4), 519-22. doi:10.1177/000456329903600419
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