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VLCAD Nutrition Management Guidelines
First Edition
February 2019, v.1.0
Current version: v.1.1
Updated: February 2019
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List of Tables
RECOMMENDATION TABLE #1: VLCAD Phenotypes

Phenotype

Newborn screen

Diagnosis

Clinical Symptoms
(prior to treatment)

Biochemical
Monitoring

Mild

Mild to moderately elevated concentrations of long chain acylcarnitines

Diagnostic testing confirms the diagnosis, although plasma acylcarnitine profile may be near normal

-Asymptomatic beyond infancy

-Tolerates catabolic stressors without metabolic decompensation

-May present with rhabdomyolysis, muscle pain and/or exercise intolerance during adolescence and adulthood

Often normal for healthy individuals

Moderate

Mild to moderately elevated concentrations of long chain acylcarnitines

Diagnostic testing includes an abnormal plasma acylcarnitine profile

-Asymptomatic at diagnosis

-Episodic hypoketotic hypoglycemia or rhabdomyolysis precipitated by catabolic illness, fasting or exercise

-Cardiomyopathy or other cardiac presentation unlikely.

Abnormal even when healthy

Severe

Significantly elevated concentrations of long chain acylcarnitines.

Diagnostic testing includes an abnormal plasma acylcarnitine profile

-Symptomatic at diagnosis or within first months of life without treatment

-May include hypertrophic or dilated cardiomyopathy, pericardial effusion and arrhythmias, as well as hypotonia, hepatomegaly, intermittent hypoglycemia and rhabdomyolysis.

Abnormal even when healthy

RECOMMENDATION TABLE #2: Laboratory and Clinical Findings in Severe VLCAD Deficiency

Findings

Symptomatic
(Pre-treatment)

Treated In Metabolic Control

During Illness

Laboratory

   

Plasma acylcarnitines1

C14:1 >1 mmol/L2

↑↑

Plasma carnitine

nl or ↓

nl

nl or ↓

Glucose

Intermittent, hypoketotic hypoglycemia3

nl

nl or hypoketotic hypoglycemia

Ketones (blood/urine)

↓ or absent3

nl or ↓

↓ or absent

Creatine kinase

↑ or nl

↑ or nl

Urine organic acids

C6-C14 dicarboxylic acids present

C6-C14 dicarboxylic acids present

C6-C14 dicarboxylic acids present

Liver function tests

↑ or nl

↑ or nl

↑ or nl

Metabolic/lactic acidosis

+

-

+

Clinical

   

Poor Feeding

+/-

-

+

Nausea/vomiting

+/-

-

+

Lethargy

+/-

-

+

Seizures

+/-

-

+/-

Coma

+/-

-

+/-

Cardiac: hypertrophic cardiomyopathy4, pericardial effusion, cardiac decompensation, arrhythmias

+/-

+/-

+/-

Hepatomegaly5

+/-

-

+/-

Encephalopathy

+/-

-

+/-

Rhabdomyolysis

+/-

-

+/-

Exercise Intolerance

NA

+/-

NA

Hypotonia

+/-

-

+/-

SIDS

Possible

NA

NA

1C14:2, C14, C12:1 are also elevated

2Cut-off values for elevations of C14:1 and other long-chain metabolites can vary among newborn screening programs

3Hypoketotic hypoglycemia is a hallmark finding in long chain fatty acid oxidation disorders

4Cardiomyopathy may persist while on dietary therapy

5Hepatomegaly is due to fatty infiltration of liver

RECOMMENDATION TABLE #3: Recommended Intakes of Essential Fatty Acids for Individuals with VLCAD

Intake Recommendations for Essential Fatty Acids

Institute of Medicine: Adequate Intake (AI)1

Age

LA2

ALA

DHA

DHA+EPA

ARA

g/d

mg/d

Not provided

0 - 6 mo

4.4

500

---

7 - 12 mo

4.6

500

---

1 - 3 yr

7

700

---

4 - 8 yr

10

900

---

9 - 13 yr

Males

Females

12

10

1200

1000

---

14 - 18 yr

Males

Females

16

11

1600

1100

---

19 - 50 yr

Males

Females

17

12

1600

1100

---

Pregnancy

13

1400

---

Lactation

13

1300

---

Food and Agriculture Organization/World Health Organization (FAO/WHO):

Adequate Intake (AI)3

Age

LA2

ALA

DHA

DHA+EPA

ARA

% Energy4

% Energy

% Energy

mg/d

% Energy

0-6 mo

-

0.2 - 0.3

0.1 - 0.18

-

0.2 - 0.3

Age

LA2

ALA

DHA

DHA+EPA

ARA

% Energy4

% Energy

mg/kg

mg/d

-

6-24 mo

3 - 4.5

0.4 - 0.6

10 - 12

-

-

2 - 4 yr

2.5

 0.5

-

100 - 150

-

4 - 6 yr

2.5

0.5

-

150 - 200

-

6 - 10 yr

≥ 2.5

0.5

-

200 - 250

-

Age

LA2

ALA

DHA

DHA+EPA

ARA

% Energy4

% Energy

mg/d

mg/d

-

Pregnancy

≥ 2.5

0.5

200

300

-

Lactation

2.5

0.5

200

300

-

European Society for Pediatric Gastroenterology and Nutrition (ESPGHAN)5

Age

LA2

ALA

DHA

DHA+EPA

ARA

mg/kg

mg/kg

mg/kg

mg/kg

mg/kg

Premature Infants6

385 - 1540

55

12 - 30

-

18 - 42

1Data summarized from Dietary Reference Intakes for energy, carbohydrate, fiber, fat, fatty acids, cholesterol, protein and amino acids, 2005.

2Abbreviations for fatty acids: LA: linoleic acid; ALA: alpha linolenic acid; DHA: docosahexaenoic acid; EPA: eicosopentanoic acid; ARA: arachidonic acid

3Data summarized from Fats and fatty acids in human nutrition: Report of an expert panel, 2010 (L.342).

4Intakes expressed as percent of total energy

5Data summarized from Committee on Nutrition, ESPGHAN, 2010 (L.345).

6Birth weight defined as 1000-1800 g

RECOMMENDATION TABLE #4: Nutrition Problem Identification for VLCAD

Nutrition Diagnosis1

(Problem)

Related to

(Etiology)

As Evidenced By

(Signs and Symptoms)

Based on assessment findings, specify the current nutrition-related problem(s) to be addressed through nutrition management.

Identify the most pertinent underlying cause(s) or contributing risk factors for the specific problem. The etiology is commonly the target of nutrition intervention.

List subjective and objective data that characterize the specific problem and are also used to monitor nutrition intervention and outcomes

Examples of specific nutrition problems:

Examples of underlying causes of the problem:

Examples of data used to determine and monitor the problem:

Intake Domain

Predicted excessive energy intake

Predicted suboptimal energy intake

Excessive fat intake

Inadequate fat intake

Predicted inadequate nutrient intake (specify e.g. MCT)

Intake of type of fat inconsistent with needs (specify e.g., excessive LCFA, inadequate MCT)

Inadequate essential fatty acid intake

Excessive enteral nutrition infusion

Inadequate enteral nutrition infusion

Enteral nutrition composition inconsistent with needs

Excessive duration between feeds (fasting)

Clinical Domain

Impaired nutrient utilization

Altered nutrition-related lab values

Food-medication interaction (specify)

Growth rate below expected

Underweight

Overweight/obesity

Behavioral-Environmental Domain

Food and nutrition-related knowledge deficit

Limited adherence to nutrition-related recommendations

Limited access to food

Limited access to medical food

Consumption Factors

Lack of medical food2 consumption

Suboptimal medical food2 consumption

Excessive intake of (specify food or beverage)

Inadequate intake of (specify food or beverage)

Long duration between feedings

Provider Factors

Nutrition prescription no longer meets fat intake needs

Nutrition prescription no longer meets energy needs

Underlying Disease Factors

New diagnosis of VLCAD

Onset of cardiomyopathy or rhabdomyolysis

Acute illness or infection

Poor appetite due to (specify)

Patient/Caretaker Knowledge and Behavior Factors

Food choices suboptimal

Lack of knowledge

Limited adherence to dietary therapy recommendations

Presentation to clinic for initial nutrition education

Presentation to clinic for revised nutrition education (specify, e.g., illness, growth, pregnancy)

Change in nutrient needs (specify, e.g MCT, energy) due to new or increased physical activity

Access Factors

Lack of financial resources for medical food2

Lack of medical insurance

Inadequate third-party or denial of coverage for medical foods2

Lack of access to resources for care

From Biochemical Tests

Laboratory value compared to norm or goal (specify) (e.g. CK, acylcarnitine)

From Anthropometrics

Growth pattern, weight, weight-for-height or BMI compared to standards (specify)

Weight gain/loss (specify weight change) over the past (specify time frame)

From Clinical/Medical Exam or History

New diagnosis of VLCAD

Micronutrient deficiency (physical sign or lab value)

EFA deficiency (lab value or physical sign)

From Diet History

Estimated or calculated intake from diet record or dietary recall, compared to recommendation or individual's nutrition prescription (specify)

Incomplete/inadequate/missing diet history or recall

From Patient Report

Verbalized lack of skill or understanding to implement nutrition recommendations

Lack of appreciation for the importance of making nutrition-related changes

Lack of social or familial support

1Table content is based on Nutrition Care Process (NCP) terminology developed by the Academy of Nutrition and Dietetics (eNCPT. 2018 edition). NCP uses the following structure for documenting nutrition problems: nutrition diagnosis (Problem), related to (Etiology), and as evidenced by (Signs and Symptoms). Examples listed identify concerns particular to VLCAD and are grouped in domains of: Intake, Clinical, and Behavioral-Environmental. Problems identified may relate to any Etiology and be evidenced by any Signs and Symptoms within a domain.

2Low long-chain fat, high MCT medical food (formula). Refer to RECOMMENDATION TABLE #5, Medical Foods for the Nutrition Management of VLCAD for types of medical foods.

RECOMMENDATION TABLE #5: Medical Foods for the Nutrition Management of VLCAD

Medical Food1

Quantity

Energy (kcal)

Prot
(g)

CHO
(g)

Total Fat (g)
(% of energy)

LCT (g)
(% of  energy)

MCT (g)
(% of energy)

LA
(mg)

ALA
(mg)

Pregestimil2

100 g

500

14

51

28

(48)

12.7

(23)

15.3

(26)

4700

590

Lipistart3

100 g

450

13.7

55

20.6

(38)

3.8

(8)

16.5

(30)

1730

240

Monogen4

100 g

444

12.9

69

12.9

(24)

2.1

(4)

10.8

(20)

900

170

Enfaport5

100 ml

103

3.6

10

5.6

(46)

1.0

(9)

4.6

(37)

420

60

Source: MetabolcPro© (http://metabolicpro.org), Accessed 10/11/18

Some values have been rounded to nearest whole number or to one decimal.

1Examples of products available in the U.S. as of October 2018. Inclusion in table does not represent endorsement.

Mead Johnson Nutrition, Evansville, IN

3Vitaflo USA, Alexandria, VA

4Nutricia North America, Gaithersburg, MD

5Mead Johnson Nutrition, Evansville, IN; (ready to feed formula with concentration of 30 kcal/oz)

RECOMMENDATION TABLE #6: Sources of Medium Chain Triglycerides (MCT)

Product1

Quantity

Energy (kcal)

Total Fat
(g)

MCT
(g)

Comments

betaquik2

1 ml

1.9

0.21

0.20

Packaging: 225 ml bottle

Liguigen3

1 ml

4.5

0.5

0.45

Packaging: 250 ml bottle

MCT Oil4

1 ml

7.7

0.93

0.93

Packaging: 1 quart (946 ml) glass bottle

MCT Procal2

1 g

6.6

0.63

0.62

Packaging: 1 sachet = 16 g

MCT Procal2

1 sachet

105.1

10.1

9.95

1 sachet = 2 scoops

Source: MetabolcPro© (https://metabolicpro.org), Accessed 10/23/18

1Examples of products available in the U.S. as of October 2018. Inclusion in table does not represent endorsement.

2Vitaflo USA, Alexandria, VA

3Nutricia North America, Gaithersburg, MD

4Nestlé Health Science, Bridgewater, NJ

RECOMMENDATION TABLE #7: Recommendations for Fasting Intervals for Individuals with VLCAD when well

Age

Disease Severity

Maximum duration between feedings (hours)

0 to < 4 mos

Severe1

3

Moderate

3 to 4

Mild

4 to < 6 mos

Severe1

4

Moderate

4 to 6

Mild

6 to < 9 mos

Severe1

6

Moderate

6 to 8

Mild

9 to < 12 mos

Severe1

8

Moderate

8 to 10

Mild

> 12 mos

Severe1

10

Moderate

10 to 12

Mild


1 Based on clinical signs and symptoms, some individuals with severe VLCAD may require shorter intervals between feedings.

RECOMMENDATION TABLE #8: Recommended Fat (total, long chain and medium chain), Energy and Protein Intakes for Individuals with VLCAD when Well
AgeDisease Severity

Total Fat (% of total energy)1

Long-Chain Fat (% of total energy)Medium-Chain Fat (% of total energy)Energy2

Protein (g/kg/d)

0-6 mosSevere40-5510-1530-45EER≥1.5
Moderate15-3010-30
Mild30-550-20
7-12 mosSevere35-4510-1525-30EER≥1.2
Moderate15-3010-25
Mild30-400-10
1-3 yearsSevere30-4010-1510-30EER≥1.1
Moderate20-3010-20
Mild20-400-10
4-18 yearsSevere25-351015-25EER with PAL30.85-0.95
Moderate15-2510-20
Mild20-350-10
>19 yearsSevere20-351010-25EER with PAL30.8
Moderate15-2010-20
Mild20-350-10
PregnancySevere20-351010-25EER per trimester41.1
Moderate15-2010-20
Mild20-350-10
LactationSevere20-351010-25EER1.3
Moderate15-2510-20
Mild20-350-10

1 Total fat recommendations based on Adequate Intakes (AI) established by the Institute of Medicine (Dietary Reference Intakes for energy, carbohydrate, fiber, fat, fatty acids, cholesterol, protein and amino acids, 2005) and AI established by the Food and Agriculture Organization of the United Nations (FAO) (Fats and fatty acids in human nutrition: Report of an expert consultation, 2010)

2 EER = Estimated Energy Requirement. To meet energy needs, recommend using the EER calculations for age established by the  Institute of Medicine (Dietary Reference Intakes for energy, carbohydrate, fiber, fat, fatty acids, cholesterol, protein and amino acids, 2005)

Include Physical Activity Level (PAL) in EER calculations for ages 4 to adult.

  • PAL 4-18 years: Males - Sedentary = 1.0, Low Active = 1.12, Active = 1.27, Very Active = 1.45; Females - Sedentary =1.0, Low active = 1.18, Active = 1.35, Very active=1.6
  • PAL ≥ 19 years: Males - Sedentary = 1.0, Low Active = 1.11, Active = 1.25, Very Active = 1.48; Females - Sedentary = 1.0, Low active = 1.12, Active = 1.27, Very active =1.45

4 EER for pregnancy

  • Trimester 1 = EER for age
  • Trimester 2 = EER pre-pregnancy + 340 kcal
  • Trimester 3 = EER pre-pregnancy + 452 kcal

5 Protein requirements based on AI for infants 0-6 months of age and RDA for other age groups established by the Institute of Medicine (Dietary Reference Intakes for energy, carbohydrate, fiber, fat, fatty acids, cholesterol, protein and amino acids, 2005)

RECOMMENDATION TABLE #9: Essential Fatty Acid Content of Selected Oils

Type of Oil

Amount
(ml)

Weight
(g)

Energy
(kcal)

Fat
(g)

LA1
(mg)

ALA2
(mg)

Canola Oil

1

0.9

8

0.9

170

80

Corn Oil

1

0.9

8

0.9

480

10

Flaxseed Oil

1

0.9

8

0.9

130

480

Peanut Oil

1

0.93

8

0.93

300

0

Safflower Oil

1

0.9

8

0.9

670

0

Sesame Oil

1

0.9

8

0.9

290

0

Soybean Oil

1

0.9

8

0.9

450

60

Walnut Oil

1

0.9

8

0.9

480

90

1 Linoleic Acid

2 Alpha Linolenic Acid

Source: MetabolcPro © (https://metabolicpro.org), Accessed 10/10/18

RECOMMENDATION TABLE #10: Monitoring the Nutritional Management of an Individual with VLCAD when Well
Domains1InfantsChildrenAdultsPregnancy and
Postpartum Period
Measures(0-1 year)(1-7 years)(8-18 years)AdultsPregnancy

Postpartum Lactation

Clinical Assessment
Nutrition Visit (dietary intake2 and nutrient analysis, nutrition-related physical findings, feeding skills, activity level, nutrition counseling)Weekly to monthlyMonthly to every 6 monthsEvery 6 to12 monthsEvery 6 to12 monthsMonthly to per trimesterAt 6 weeks postpartum, then every 6 months while breastfeeding
Anthropometrics3
(weight, length or height, weight for length or BMI)
At every clinic visit
Include head circumference
At every clinic visit3
Include head circumference through 36 months
At every clinic visitAt every clinic visitAt every clinic visitAt every clinic visit
PsychologicalRoutine neurodevelopmental assessments
Biochemical (Routine)
Creatine KinaseEvery 3 monthsEvery 3 to 6 monthsEvery 6 monthsAt every clinic visitAt every clinic visitAt every clinic visit
Plasma carnitine (free, total, esterified)Every 3 monthsEvery 6 months to yearlyEvery 6 months to yearlyAt every clinic visitAt every clinic visitAt every clinic visit
Biochemical (Conditional)4
CMP (including LFT and blood glucose) Complete blood count, iron indicesAs indicatedAs indicatedAs indicatedAs indicatedAs indicatedAs indicated
Plasma acylcarnitinesEvery 3 monthsEvery 3 to 6 monthsEvery 6 to12 moAt every clinic visitWeekly to monthlyAt every clinic visit
For individuals on a long chain fat restriction:      
Essential Fatty Acids
(RBC or plasma)
Every 6 monthsEvery 6 monthsEvery 6 monthsEvery 6 monthsEvery 6 monthsEvery 6 months
25-hydroxy- vitamin D,
Vitamin E, Vitamin A
As indicatedAs indicatedAs indicatedAs indicatedAs indicatedAs indicated
For individuals with a cardiac phenotype:      
Troponin, B-natriuretic proteinAs indicatedAs indicatedAs indicatedAs indicatedAs indicatedAs indicated
Radiological
Dual-energy X-ray absorptiometry (DXA)5NANAAs indicatedEvery 5 yearsNANA
EchocardiogramInitial evaluation, then as indicated by cardiologistAs indicated by cardiologistAs indicated by cardiologistAs indicated by cardiologistAs indicated by cardiologistAs indicated by cardiologist

1Recommendations are for well individuals with a severe form of VLCAD and were derived from literature review and Delphi Survey. Frequency of clinical and laboratory assessments at a metabolic clinic (involving the medical geneticist, metabolic dietitian, social worker, nurse specialist, psychologist, genetic counselor, etc.) may not be possible because of travel distance, cost, loss of work days, etc. Coordination with primary care and community-based providers, use of telemedicine, and frequent communication by telephone and mail may be employed. More frequent monitoring may be necessary if individual is not in good metabolic control.

2A mechanism for assessing dietary intake, whenever blood is monitored, should be in place. MetabolicPro (http://www.metabolicpro.org) is a computer program available for dietary analysis of amino acid-restricted diets.

3The Centers for Disease Control and Prevention (CDC) recommends using the 2006 World Health Organization (WHO) Child Growth Standards to evaluate growth of infants ages birth to 24 months. The CDC recommends using the 2000 CDC Growth Charts (CDC) to evaluate the growth of children ages 2-20 years. Techniques for measurement are described on the CDC website (http://www.cdc.gov/growthcharts/cdc_charts.htm).

4Monitoring is indicated when nutrition assessment indicates a low fat intake, poor adherence to diet, and/or inadequate medical food consumption, or when there are clinical signs/symptoms of nutritional inadequacy including poor growth, or serious intercurrent illness. If laboratory values are abnormal, reassessment should be scheduled within one month of intervention.

5DXA is indicated in individuals who have frequent fractures, and/or low serum 25-hydroxyvitamin D concentrations, or other indices indicating possible bone abnormalities.

LITERATURE EVIDENCE SUMMARY TABLE #11: Long-chain Fat Restriction and MCT Supplementation Recommendations for Individuals with VLCAD over the age of 1 year

NOTE: This table is a summary of published literature used to inform the nutrition recommendation.

Reference

Age/Phenotype

History of Symptomology

Remains Asymptomatic

LCF 1

(% Energy)

MCT 2

(% Energy)

LCF 1

(% Energy)

MCT 2

(% Energy)

F.4375

1-5 years

10

20-25

15-20

15-20

> 5 years

10

20-25

"Heart Healthy"3

Use only in times of need (i.e. exercise)

F.9

Severe phenotype

>12 months

10

>20

10 4

>20 4

Mild phenotype

>12 months

"Heart Healthy"3

Supplement with MCT5

"Heart Healthy"3

Supplement with MCT5

LCF = long chain fat from diet sources, expressed as percent of total energy.

2 MCT = medium chain triglyceride supplementation, expressed as percent of total energy.

3 A "Heart Healthy" diet provides approximately 30% of total energy from fat sources.

In F.9, consensus was not reached for this recommendation, but majority response is provided.

Add a source of MCT to the diet; amount not specified.

LITERATURE EVIDENCE SUMMARY TABLE #12: Long-chain Fat Restriction and MCT Supplementation Recommendations for Infants with VLCAD

NOTE: This table is a summary of published literature used to inform the nutrition recommendations.

Reference

Age/Phenotype

Symptomatic

Asymptomatic

F.4375

0-6 months

100% MCT formula1

Breast milk2 +/- MCT formula

6-12 months

MCT formula

Low fat diet with 10% of energy from LCF

Breast milk +/- MCT formula

Low fat diet with 15% of energy from LCF

F.3

0-4 months

100% MCT formula

50% Breast milk

50% MCT formula

> 4 months

Total fat (LCF + MCT): 25-30% of energy3

20% of energy as MCT

Total fat (LCF + MCT): 30-40% of energy

10-15 % of energy as MCT

F.9

Breastfeeding

Severe phenotype

< 12 months

Change to MCT formula

No consensus.

Majority: Continue breast feeding as long as infant remains asymptomatic with normal cardiac function

Mild phenotype

< 12 months

Continue breast feeding

Supplement with source of MCT

Continue breast feeding

Bottle Feeding

Severe phenotype

< 12 months

Change to MCT formula

Change to MCT formula

Mild phenotype

< 12 months

Change to MCT formula

No consensus to change to MCT formula

MCT formula = a medical food restricted in long chain fat (LCF) and supplemented with medium chain triglycerides (MCT). (RECOMMENDATION TABLE #5, Medical Foods for the Nutrition Management of VLCAD)

Breast milk from the breast or expressed breast milk

Total fat = long chain fat from diet + MCT supplement

LITERATURE EVIDENCE SUMMARY TABLE #13: MCT Use in Individuals with VLCAD and Cardiomyopathy and/or Rhabdomyolysis

NOTE: This table is a summary of published literature used to inform the nutrition recommendations.

Presenting symptom(s)Number of casesPercent of patients prescribed MCTReferences
Cardiomyopathy only14100F.3712, F.4118, F.660, F.657, F.635, F.626, F.3797, F.4098, F.633, F.4124, F.18, F.15, F.4422, F.656
Rhabdomyolysis only2544F.3851, F.7, F.6, F.4052, F.621, F.4049, F.4380, F.4, F.4417, F.622, F.4164, F.4117, F.4051. F.3858, F.3851, F.630, F.17, F.4397, F.3719, F.636, F.658
Cardiomyopathy and Rhabdomyolysis1090F.14, F.3884, F.3896, F.654, F.4382
Cardiomyopathy, rhabdomyolysis and hypoglycemia2080F.4140, F.4415, F.4, F.3896, F.3735, F.3717
LITERATURE EVIDENCE SUMMARY TABLE #14: European Consensus of Essential Fatty Acid Intakes

NOTE: This table is a summary of published literature used to inform the nutrition recommendations.

Age1

Linoleic Acid (LA)

(% of total energy)

α-Linolenic Acid (ALA)

(% of total energy)

0 to 4 months

4.0

0.5

4 to 12 months

3.5

0.5

1 to 4 years

3.0

0.5

Over 4 years

2.5

0.5

1 Source: (F.3)

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