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PROTOCOL 20 Mitochondrial Fatty Acid Oxidation Defects

Nutrition Support of Infants, Children, and Adults With


PROVIMIN Protein-Vitamin-Mineral Formula Component With Iron
I.

Introduction
Fatty acids are a primary metabolic fuel for the body when fasting is prolonged and a direct source of
energy for heart and skeletal muscle. Ketones such as acetoacetate and -hydroxybutyrate, obtained
during hepatic fat metabolism, are an important energy source for the brain in particular, as well as
other tissues. Infants and young children may have problems adapting to fasting due to their high
basal energy needs required to maintain body temperature; the high rate of brain metabolism; and the
low activity of several enzymes involved in energy production (42).
During fasting, fatty acids are released from adipocytes and carried to other tissues by lipoproteins
or albumin. Fatty acids with > 10 carbons are activated to-CoA esters in the cytosol. These acyl-CoA
compounds are carried to the mitochondria by carnitine palmitoyl transferase types I and II (CPT I
and II). Fatty acids with < 10 carbons do not require CPT I and II to enter the mitochondria, where they
are activated to-CoA esters (42).
In the mitochondria, fatty acids are degraded by the sequential removal of 2-carbon fragments as
acetyl-CoA (Figure R). Four carbon chain length-specific enzymes are required: an acyl-CoA
dehydrogenase, an enoyl-CoA hydratase, 3-hydroxyacyl-CoA dehydrogenase, and a 3-ketoacyl-CoA
thiolase (Figure R). In the liver, most of the acetyl-CoA is used for ketone body synthesis (42).
Deficiencies of very long-chain-, long-chain-, medium-chain-, short-chain-, 3-hydroxy-, and shortchain-hydroxyacyl-CoA dehydrogenases and mitochondrial trifunctional protein (51, 54) have been
reported. Medium-chain-acyl-CoA dehydrogenase deficiency (MCADD) was found to occur in about
1/8,900 live births in Pennsylvania (63). Similar initial symptoms are found in all the dehydrogenase
deficiencies. Some patients may develop symptoms as neonates. Symptoms are often induced by
fasting or an infection with vomiting or diarrhea. Lethargy, muscle weakness, seizures, coma, and
death may occur. Fatty infiltration of organs is often found on autopsy (37, 42).
Substrate
Acyl -CoA

Chemical structure

Enzyme

R-CH 2-CH 2-CH 2-CO -S-CoA


FAD
Acyl - CoA dehydrogenase
FADH 2

Enoyl -CoA

R-CH 2-CH -CH -CO -S-CoA


H2O
Enoyl -CoA hydratase

3-Hydroxyacyl -CoA

R-CH 2-CHOH -CH 2-CO -SCoA


NAD

3-Hydroxyacyl -CoA dehydrogenase

NADH 2
3-Ketoacyl -CoA

R-CH2 -CO -CH2 -CO -S-CoA


3-Ketoacyl -CoA thiolase

Acetyl -CoA

CH3 -CO -S-CoA

Site of possible enzyme defect.

Figure R. Mitochondrial -oxidation (modified from reference 42)


Development of pigmentary retinopathy or peripheral neuropathy is specifically associated with
long-chain-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency (3, 19, 37, 46). Some mothers who
are heterozygous for mitochondrial fatty acid oxidation (FAO) defects develop acute fatty liver of
pregnancy during the 3rd trimester of pregnancy (49, 60).

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II.

Outcome of Nutrition Support


Variable outcomes of nutrition support have been reported in infants and children with long-chain-FAO
defects. As with most metabolic disorders, severity of the enzyme defect, time of diagnosis, and longterm metabolic control influence the long-term outcome for these patients. Although fatal hypoketotic
hypoglycemic episodes may occur in children with any long-chain-FAO defect, long-term intensive
nutrition support has been associated with positive outcomes in several reports (14, 23, 32, 39, 52,
61). A diet restricted in long-chain-fatty acids but supplemented with fractionated coconut oil (MCT) is
the most effective treatment for infants and children affected with disorders of long-chain-FAO.
Reported benefits include decreased frequency of metabolic crises, improved muscle tone, sustained
physical growth, and developmental gains.
Of 120 patients with MCADD reported in the United States, 23 expired; of the 97 surviving
patients, 16% had muscle weakness, 14% had failure to thrive, 40% had developmental delay, 22%
had speech disabilities, 11% had attention deficit disorder, and 9% had cerebral palsy. All children
were told to avoid fasting, 70 received supplemental L-carnitine, 60 received a low-fat diet, 2 were
given supplemental glycine (GLY), and 1 received supplemental riboflavin (22).

III.

Establish Diagnosis
A. The Defect (24, 42, 46, 52-54, 62)
1. Disorders of mitochondrial FAO may result from 1 of several defects:
a. Very-long-chain-acyl-CoA dehydrogenase deficiency.
b. Long-chain-acyl-CoA dehydrogenase deficiency.
c. Long-chain-3-hydroxyacyl-CoA dehydrogenase deficiency.
d. Medium-chain-acyl-CoA dehydrogenase deficiency.
e. Short-chain-acyl-CoA dehydrogenase deficiency.
f. Short-chain-hydroxyacyl-CoA dehydrogenase deficiency.
g. Mitochondrial trifunctional protein deficiency.
B. Differential Diagnosis (44, 58, 59)
1. Infants or children who, on fasting, have episodes of arrhythmias (4), lethargy, vomiting,
hepatomegaly, or Reye-like syndrome, seizures, cardiomyopathy, peripheral neuropathy,
pigmentary retinopathy, or coma associated with any of the following laboratory findings
should have a diagnostic work-up for FAO defect:
a. Hypoketotic hypoglycemia.
b. Minimal metabolic acidosis.
c. Elevated blood urea nitrogen (BUN) concentration.
d. Elevated blood ammonia concentration.
e. Elevated plasma urate concentration (11).
f. Elevated concentration of transaminases.
g. Myoglobinuria (13).
h. Plasma carnitine deficiency.
i. Dicarboxyluria.
j. Rhabdomyolysis (43).
2. Siblings of children who have died with sudden infant death syndrome (SIDS) or Reye's
syndrome should be evaluated for FAO defect (11, 21, 35, 42).
3. See references 5, 9, 17-19, 28, 31, 42, 51, and 57 for methods of diagnosis to determine
which defect is present.

IV.

Rationale for Nutrition Support


A. Correct Primary Imbalance in Metabolic Relationships
1. Restrict type and amount of dietary fat to level tolerated by patient and appropriate to
diagnosis to decrease production of abnormal metabolites (6, 16).
B. Supply "Conditionally Essential" Nutrients
1. Supplement L-carnitine to maintain plasma free carnitine in normal range ( 30 mol/L).
C. Provide Alternate Pathway to Decrease Accumulated Toxic Precursors
1. Supplement GLY to enhance urinary loss of toxic acyl compounds as nontoxic
acylglycine (41).

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D. Stabilize Altered Enzyme Proteins


1. Supplement oral riboflavin in pharmacologic amounts (12, 26).

V.

Establish Goals of Nutrition Support


A. Blood Glucose and Plasma Carnitine Concentrations
1. Maintain normal blood glucose concentrations.
2. Maintain normal plasma free carnitine 30 mol/L (26, 45, 56).
3. Prevent accumulation of abnormal metabolites.
B. Growth, Development, and Nutrition Status
1. Support normal growth rate in infants and children, and maintain appropriate weight for height
in adults.
2. Prevent EFA deficiency.
3. Support normal development.
4. Maintain normal nutrition status.
a. Prevent catabolism.
b. Avoid prolonged fasting
5. Maintain adequate hydration
6. Avoid lipid storage in heart, liver and muscles (22, 45).

VI.

Establish Prescription
A. Energy
1. Prescribe amount that should support normal weight gain for infants and children and maintain
appropriate weight for height in adults (Table 20-1, p 359).
2. Requirements vary widely.
Warning:
Inadequate energy intake will result in growth failure in infants and children,
weight loss in adults, and can adversely affect metabolic control if catabolism
of fat stores occurs (27).
B

Protein
1. Prescribe amount that supplies 10-12% of total energy (Table 20-1, p 359).

C. Fat (44)
1. Prescribe amount of total fat that promotes goals of nutrition support (10, 16).
a. Very-long chain and long-chain-FAO defects:
1) Prescribe ~30% of energy as fat.
2) About 50% of fat energy should be derived from MCT and remainder from fats that
supply linoleic and -linolenic acids (20, 34).
3) Docosahexaenoic acid may be essential for the patient with long-chain-3-hydroxyacylCoA dehydrogenase deficiency.
i. Harding, et al (20) suggest 65 mg/day for children < 20 kg and 130 mg/day for
children > 20 kg.
b. Medium- and short-chain-FAO defects:
1) Provide 15-25% of total daily energy as fat (7, 33).
c. Prescribe 3% of total energy as linoleic acid and 1.0% as -linolenic acid.
Warning:
EFA deficiency may occur if intakes of linoleic acid and -linolenic acid are
inadequate. Symptoms include dermal scaliness and increased skin
permeability, reduced growth rate, renal abnormalities, increased erythrocyte
fragility, increased susceptibility to infections, and decreased rate of
development (26, 40, 50).
D. Carbohydrate
1. Prescribe remaining energy as carbohydrate.

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E. Fluid
1. Prescribe amount that will supply water requirements (Table 20-1, p 359). Under normal
circumstances, offer minimum of 1.5 mL fluid to neonates and 1.0 mL fluid to children and
adults for each kcal ingested (2).
2. Requirements may be higher than recommended secondary to accompanying fever.
F. L-Carnitine
1. Prescribe amount that maintains normal plasma free carnitine concentration > 30 mol/L.
2. Amounts of 50 to 150 mg/kg have been suggested (41, 46).
3. Efficacy of carnitine supplementation in treatment of FAO defects is debated but use is almost
standard therapy.
G. Glycine
1. Supplement diet with 100 to 200 mg/kg/day (41).
H. Riboflavin
1. Supplement diet with 100 to 200 mg/day, if beneficial (12, 26).
I.

Fasting
1. Instruct parents, patient, or caretakers to prevent infants from fasting > 4 hours, children
> 6 hours, and adults > 8 hours.
2. Raw cornstarch (1.75-2.5 g/kg) helps prevent hypoglycemia (8).
Warning:
Increased frequency of feeding, tube feedings, and IV glucose may be
necessary if patient is febrile, has diarrhea, or is vomiting.

VII. Fill Prescription


A. Protein
1. Calculate grams of protein required to provide 10% to 12% of energy prescription.
2. Determine amount of protein provided by ProViMin, (Table 20-2, p 359), beikost, table foods
(Tables 20-2 and 20-3, pp 359 and 360), or skim milk (Appendix 8, p A-7) required to fill
protein prescription.
Warning:
Do not use skim milk before patient is 2 years old.
B. Fat
1. Very-long-chain and long-chain-FAO defects:
a. Calculate grams of fat required to provide 30% of energy prescription.
1) Supply about 50% of fat energy with MCT oil (Appendix 26, p A-28).
i. MCT oil contains 8.2 kcal/g, 114.8 kcal/Tbsp, and 7.6 kcal/mL.
Warning:
Administer MCT oil ONLY if defect in long-chain-FAO is confirmed since
addition of MCT oil is harmful to individuals with medium- or short-chain-FAO
defects.
b. If fat sources fail to supply 3% of energy as linoleic acid and 1% as -linolenic acid, add
adequate amount of appropriate vegetable oil to supply (Appendix 10, p A-9).
c. Amount of MCT oil will need to be decreased if sources of EFAs increase dietary fat to
> 30% of energy.
d. Order docosahexaenoic acid from Martek Biosciences Corp, Columbia, MD, USA.
2. Medium- and short-chain-FAO defects:
a. Calculate grams of fat required to provide 15% to 25% of energy prescription.
b. Determine amount of vegetable oil (Appendix 10, p A-9), beikost, or table foods
(Tables 20-2 and 20-3, pp 359 and 360) required to fill fat prescription.
c. Use fat source that supplies adequate linoleic acid and -linolenic acid.
C. Energy
1. Add energy supplied by beikost or table foods to those required to supply fat and to those
supplied by ProViMin, skim milk, carbohydrate, or other protein-containing foods.
2. Subtract amount determined above from total energy prescription.

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Mitochondrial FAO Defects 353

3. Supply any remaining prescribed energy with Polycose Glucose Polymers powder
(23 kcal/Tbsp, 3.8 kcal/g) or liquid (2 kcal/mL) (Appendix 9, p A-9), sugar (48 kcal/Tbsp), or
pured or table foods containing little or no fat (Tables 20-2 and 20-4, pp 359 and 360).
a. Do not use corn syrup or table sugar for infants because of osmolarity they yield (28).
b. Do not use honey for infants because it may contain botulinum toxin (50).
4. Add beikost or table foods after infant is 3 to 4 months old or is developmentally ready to
provide variety in taste, color, and texture (Table 20-2, p 359).
5. If additional carbohydrate is needed, see Table 20-4, p 360.
D. L-Carnitine (Appendix 26, p A-28)
1. Add liquid L-carnitine to ProViMin medical food mixture.
2. L-carnitine tablets may be used if patient is old enough to swallow them.
E. Glycine (Appendix 26, p A-28)
1. Weigh GLY on scale that reads in grams.
2. Add sufficient boiled, cooled water to yield 100 mg/mL. (eg, 10 g GLY to yield 100 mL).
3. Store in refrigerator for 1 week, if not frozen.
4. Measure into medical food mixture with disposable syringe.
F. Riboflavin (Appendix 26, p A-28)
1. Have parents or patients finely crush number of tablets required to supply prescribed
milligrams of riboflavin if patient cannot swallow tablets.
2. Mix with medical food mixture.
3. Give 25 to 30 mg with each feed. Additional will not be absorbed. A greater amount is
absorbed when given with food than when fasting.
G. Fluid and Mixing Instructions for ProViMin
1. Boil bottles, nipples, rings, and mixing utensils for 5 minutes and cool. Boil more water for
5 minutes, then cool to room temperature.
2. Measure or weigh specified boiled, cooled water, ProViMin, fat, carbohydrate, L-carnitine,
GLY, and riboflavin into clean containers.
3. Pour about 1/2 specified volume of boiled, cooled water into clean blender. Running blender
at slow speed, gradually add ProViMin and fat and blend for at least 15 seconds.
4. Dissolve powdered carbohydrate in part of the water and pour into blended ProViMin and
infant formula mixture, add boiled, cooled water to yield final prescribed volume, mix well, and
pour into opaque sterilized nursing bottles or cups. Prepared formula not used immediately
should be refrigerated and used within 24 hours. Shake well before feeding.
5. Do not use microwave oven to warm formula. Unevenly heated formula can burn infants and
steam can make bottles explode.
6. Discard formula remaining in bottle or cup after feeding.
7. Store unopened cans at room temperature. Cover opened can of ProViMin and store in dry
place (not in refrigerator). Use within 1 month after opening.
8. Notify parents or caretakers when they may discontinue use of aseptic technique in making
formula.
F. Diet Guide
1. Provide parents, caretakers, or patient with completed Diet Guide (Table 20-5, p 361) with
each diet change.
Warning:
Never permit patient to fast > 4 hours if infant, > 6 hours if child, or > 8 hours
if adult; shorten fasting time if patient is febrile, has diarrhea, or is vomiting.

VIII. Evaluate Adequacy and Safety of Planned Nutrition Support


A. Nutrient Adequacy
1. Determine if diet provides nutrients in amounts prescribed in Section VI, Establish
Prescription, p 352.
a. See Table 20-2, p 359, for composition of ProViMin and Appendix 8, A-8, for skim milk.
b. See Appendix 9, p A-9, for composition of Polycose.
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2. Check diet to determine if it supplies Recommended Dietary Intakes (RDIs) of minerals and
vitamins (Table 6-4, p 118, and Appendices 13 and 14, pp A-14 to A-15).
a. Appendix 23, p A-25, may be used to check adequacy of nutrients if computer program is
not available.
b. If ProViMin mixture provides < 100% of RDIs for infants and < 75% for children,
supplement diet with needed minerals and vitamins if not provided by beikost or table
foods and laboratory tests indicate need (Appendix 11, p A-10, for composition of
supplements).
B. Osmolarity
1. If concentration of prescribed medical food mixture is > 27 kcal/fl oz, determine if osmolarity
is in acceptable range.
a. Determine osmolarity by laboratory analysis or use mathematical formula given in
Appendix 18, p A-20.
b. Osmolarity per gram ProViMin powder is 2.74 mosm.
2. If osmolarity is > 450 mosm/L for infants, > 750 mosm/L for children, > 1,000 mosm/L for
adults (30, 48), or is greater than tolerated by patient, increase water content of prescribed
medical food mixture and recalculate its osmolarity.
C. Potential Renal Solute Load
1. Dehydration will result if renal solute load is greater than renal-concentrating ability of patient.
2. If concentration of medical food mixture prescribed is > 27 kcal/fl oz, estimate its potential
renal solute load.
a. This step is important to prevent dehydration of infants who may have renal-concentrating
capacity as low as 600 mosm/L.
b. Upper limit of renal solute load for neonates is approximately 1,100 mosm/L (47).
3. A method for estimating potential renal solute load is given in Appendix 20, p A-22.
4. If potential renal solute load is excessive, increase water content of medical food mixture and
recalculate.

IX.

Suggested Evaluation of Nutrition Support


A. Quantitative Urine Organic Acids
1. Dicarboxylic aciduria may be detected in children with poorly controlled fat intake.
a. Fatty acids, either intact or partially oxidized, may undergo peroxisomal oxidation to
produce enzyme defect-specific dicarboxylic acids (36, 42).
b. Decrease in production of these metabolites will be seen with good dietary control.
c. Analyze urine organic acids every 2 to 3 months during 1st year and every 6-months
thereafter.
2. MCT supplementation is associated with increased urinary excretion of sebacic and suberic
acids (60).
B. Essential Fatty Acids
1. Low concentrations of docosahexaenoic (< 20 g/mL), linoleic or -linolenic acids in fasting or
preprandial plasma sample and triene to tetraene ratio > 0.03 are indicators of EFA deficiency
(20, 25).
2. With adequate EFA intake, plasma linoleic and -linolenic acid concentrations will be within
normal limits and triene to tetraene ratio will be normal (0.02 0.01).
a. Triene to tetraene ratio is considered more sensitive measure of deficiency than plasma
EFA concentration (25).
3. Evaluate EFA profile monthly for 1 year or when first establishing diet treatment.
4. If plasma linoleic or -linolenic acid concentration is low or if triene to tetraene ratio is
elevated:
a. Increase linoleic or -linolenic acid intake by 5% and reevaluate in 1 month.
b. If concentrations continue to be abnormal, repeat above until value is in normal range.
c. Correction in intake may require changing type of EFA oil source (Appendix 10, p A-9).
5. Decrease frequency of monitoring to every 3 months for older patients when diet treatment is
established and plasma EFA concentrations and triene/tetraene ratio are in normal range.

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Mitochondrial FAO Defects 355

C. Plasma Carnitine Concentrations


1. Measure plasma free and total carnitine monthly until patient is 6 months of age; every 3 to
6 months thereafter.
2. If either free or total carnitine concentration is below normal:
a. Increase prescribed L-carnitine by 5% and reevaluate plasma concentrations after
1 month.
b. If either concentration continues below normal, repeat above process until value is in
normal range.
3. Plasma acylcarnitine concentrations are useful for monitoring (1).
D. Protein Status
1. Evaluate plasma albumin concentration every 3 months until patient is 1 year old, thereafter
measure twice yearly (Appendix 17, p A-18, for standards).
2. If plasma transthyretin concentration is below standard:
a. Increase prescribed amount of protein by 5% to 10% and reevaluate plasma albumin
concentration after 1 month.
b. If plasma albumin concentration remains low, repeat above process until value is in
normal range.
E. Iron Status
1. Plasma ferritin concentration.
a. Evaluate at 6, 9, and 12 months of age and every 6 months thereafter (Appendix 17,
p A-18, for standards).
b. If plasma ferritin concentration is below standard:
1) Increase iron intake to 2 mg/kg body weight with supplements (ferrous sulfate).
2) Evaluate plasma ferritin concentration monthly on increased iron intake.
3) Continue iron supplements until plasma ferritin concentration is in normal range.
2. Complete blood count.
a. Hemoglobin and hematocrit concentrations should be evaluated at 6, 9, and 12 months of
age and every 6 months thereafter (Appendix 15, p A-17, for standards).
F. Growth Status
1. Length/height and weight.
a. Measure monthly to 1 year, every 3 months to 4 years, and twice yearly thereafter. Plot
measurements on NCHS growth charts.
b. Maintain length/height and weight between 10th and 90th percentiles. Some normal
infants and children will fall above or below these percentiles. Maintain appropriate weight
for height in adults.
2. If infant's or child's length/height or weight falls below usual growth channel:
a. Increase prescribed protein and energy by 5% to 10% and remeasure after 1 month.
b. If length/height or weight remains low, repeat above process until usual growth channel is
achieved.
G. Nutrient Intake
1. Maintain records of food intake for 3 days immediately before each blood test (Appendices 24
and 25, pp A-26 and A-27).
2. Evaluate intakes of fat, linoleic and -linolenic acids, protein, energy, minerals, and vitamins
after each diet change.
a. Appendix 23, p A-25, may be used to check adequacy of nutrients if computer program is
not available.
b. See Appendix 28, p A-29, for information about ordering software for diet evaluation. This
software does not calculate fatty acids.
H. Clinical Summary
1. A summary record of growth, laboratory, and nutrient intake data is useful for patient
management (Table 20-6, p 362).

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X.

Sample Prescription
A. Establish and fill prescription for 2 month-old infant weighing 5.2 kg who has LCHAD deficiency
using Recommended Daily Nutrient Intakes from Table 20-1, p 359, and nutrient contents from
Table 20-2, p 359, and Appendix 9, p A-9.
1. Establish prescription.
Energy
Fat

120 kcal/kg x
624 kcal x

Docosahexaenoic acid

5.2 kg
0.30

=
=

624 kcal
187 kcal
338 mg

20.8 g

18.7 kcal

2.1 g

65 mg

5.2 kg

Linoleic acid

624 kcal

0.03

-Linolenic acid
MCT oil

624 kcal

0.01

6.2 kcal

187 kcal

0.50

93.5 kcal

8.2

11.4 g

Protein

624 kcal

0.12

74.9 kcal

18.7 g

Fluid
L-Carnitine

145 mL/kg x
50 mg
x

5.2 kg
5.2 kg

=
=

0.69 g

754 mL (25 oz)


260 mg

2. Fill prescription.
Medical Food Mixture

Measure

Fat
(g)

ProViMin
25.6 g
Soy oil
10.4 mL
Polycose Powder
96 g
MCT oil
12.3 mL
Add water to make 754 mL (25 fl oz).

0.37
9.40
0.0
11.30

Linoleic -Linolenic
Acid
Acid
(g)
(g)
0.00
4.78
0.00
0 00

0.00
0.73
0.00
0.00

MCT

Protein

Energy

(g)

(g)

(kcal)

0.37
0.00
0.00
11.30

18.7
0.0
0.0
0.0

80
84
365
94

21.07
4.78
0.73
11.67
18.7
623
Total per day
29
6.90
1.05
15
11.98
Percentage of energy
Approximate osmolarity of medical food mixture is < 300 mosm/L. Estimated potential renal solute load
is < 200 mosm.

B. Example 2
Establish and fill prescription for newborn weighing 3.5 kg who has MCADD using Recommended
Daily Nutrient Intakes from Table 20-1, p 359, and nutrient content from Table 20-2, p 359, and
Appendix 9, p A-9.
1. Establish prescription.
Energy
Fat

120 kcal/kg
420 kcal

x
x

3.5 kg
0.25

Protein

420 kcal

Fluid
L-Carnitine
Glycine
Riboflavin

150 mL/kg
50 mg
100 mg
200 mg

x
x
x

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=
=

420 kcal

0.12

3.5 kg
3.5 kg
3.5 kg

=
=
=
=

50 kcal 4 kcal = 12.5 g


525 mL
175 mg
350 mg
200 mg

105 kcal 9 kcal = 11.7 g

Mitochondrial FAO Defects 357

2. Fill prescription.
Medical Food Mixture

Measure

ProViMin
Glycine
Soy oil
Polycose Liquid

16.9 g
350 mg
13 mL
132 mL

Fat
(g)
0.2
0.00
11.7
0.0

Protein
(g)
12.4
0.00
0.0
0.0

Energy
(kcal)
53
0.0
103
264

Add water to make 525 mL (18 fl oz).


11.9
12.4
420
Total per day
25%
Percentage of energy
Approximate osmolarity of medical food mixture is < 400 mosm/L. Estimated potential renal solute load
is < 170 mosm.
Linoleic acid is 5.98 g or 12.8% of energy; -linolenic acid is 0.81 g or 1.73% of energy.

XI.

Nutrition Support During Febrile Illness or Following Trauma


A. Rationale
1. In normal persons, febrile illness and trauma are accompanied by catabolism of body fat and
protein (55).
2. Well-nourished patients with FAO defects respond to infection and trauma as do normal
persons
B. Objectives of Nutrition Support
1. Maintain hydration and electrolyte balance.
a. Offer infants and toddlers Pedialyte Oral Electrolyte Maintenance Solution ad libitum
(Appendix 9, p A-9).
2. Depress catabolism
a. Enhance energy intake when possible by offering fruit juices ad libitum as tolerated, liquid
Jell-O , Polycose powder or liquid (Appendix 9, p A-9) added to fruit juices or Pedialyte if
tolerated, and caffeine-free soft drinks (not diet drinks).
1) Add 1/3 cup Polycose powder to Pedialyte liquid to yield 8 fl oz.
b. Return patient to ProViMin medical food mixture and pre-illness diet as rapidly as
possible.
1) Begin with 1/2 original strength ProViMin medical food mixture.
2) Increase to original strength as tolerated.
c. Feed Polycose solution (5-7 g/kg of carbohydrate) or carbohydrate-containing foods every
2 to 3 hours.
1) If unable to feed every 2 to 3 hours, administer solution of raw cornstarch (2 to 3 g/kg)
(1:2 ratio cornstarch to fluid) to children older than 9 months.
d. Administer 10% glucose solution intravenously if oral intake cannot be maintained.
3. Decrease intake of fatty acids.
a. Decrease fat content of diet or medical food mixture.
1) Increase Polycose in medical food mixture.
2) Remove oil prescribed for EFAs.
3) Remove MCT oil if not tolerated.
4. Prevent low blood glucose concentrations.
a. Add uncooked cornstarch, 2 to 3 g/kg/day, to any liquids and feed every 2 to 3 hours.
5. Prevent accumulation of toxic fatty acyl groups.
a. Add liquid L-carnitine to Pedialyte.
Warning:
Intravenous administration of lipids is contraindicated.

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TABLE 20-1. Recommended Daily Nutrient Intakes (Ranges) for Infants, Children, and Adults With a
Mitochondrial FAO Defect
Age

Nutrient
1

Protein
(% of energy)
Infants
0 to < 3 mo
3 to < 6 mo
6 to < 9 mo
9 to < 12 mo

10 - 12
10 - 12
10 - 12
10 - 12
(g/day)

Energy1
(kcal/kg)

Fluid2
(mL/kg)

120 (145 - 95)


115 (145 - 95)
110 (135 - 80)
105 (135 - 80)
(kcal/day)

150 - 125
160 - 130
145 - 125
135 - 120
(mL/day)

Girls and Boys


1 to < 4 yr

23

1,300 ( 900 - 1800)

4 to < 7 yr

30

1,700 (1300 - 2300)

1,300 - 2,300

7 to < 11 yr

1,650 - 3,300
1,500 - 3,000

900 - 1,800

34

2,400 (1650 - 3300)

Women
11 to < 15 yr

46

2,200 (1500 - 3000)

15 to < 19 yr

46

2,100 (1200 - 3000)

1,200 - 3,000

19 yr

1,400 - 2,500

50

2,100 (1400 - 2500)

Men
11 to < 15 yr

45

2,700 (2000 - 3700)

2,000 - 3,700

15 to < 19 yr

59

2,800 (2100 - 3900)

2,100 - 3,900

19 yr

63

2,900 (2000 - 3300)

2,000 - 3,300

From reference 15.


2
From reference 2. Under normal circumstances, offer minimum of 1.5 mL fluid to neonates and 1.0 mL to children
and adults for each kcal ingested.

TABLE 20-2. Average Nutrient Contents of Gerber Baby Foods (Beikost), ProViMin , and MCT Oil1
Food

Measure

Fat
(g)

Protein
(g)

Energy
(kcal)

Cereals, dry, Ready To Serve


Cereals, with fruit, 2nd and 3rd Foods ,
jarred
Desserts: 2nd and 3rd Foods
Fruits, 1st , 2nd and 3rd Foods
Juices
3
MCT oil
Meats, 2nd and 3rd Foods
ProViMin
Vegetables: 1st , 2nd and 3rd Foods

1 Tbsp2
1 Tbsp2

0.17
0.07

0.35
0.16

15
10

0.04
0.00
0.00
93.30
0.67
2.00
0.04

0.10
0.19
0.07
0.00
1.58
73.00
0.19

12
10
16
765
14
312
6

1
2
3

1 Tbsp
1 Tbsp2
1 fl oz
100 mL
2
1 Tbsp
100 g
1 Tbsp2

Nutrient Values. Fremont, Michigan: Gerber Products Co, 2000.


US standard level measure.
MCT oil contains 8.2 kcal/g fat.

2001 Ross Products Division

Mitochondrial FAO Defects 359

TABLE 20-3. Exchange Lists for Nutrition Support of Children and Adults With Mitochondrial FAO Defects 1
Food List

Measure

Fat
(g)

Protein
(g)

Energy
(kcal)

Meat, lean

1 oz

3.0

55

1 oz

1.0

35

Meat, very lean


Milk, skim

1 cup

0.5

90

Fat 3

varies

5.0

45

Fruit

1/2 cup canned or 1/2 cup fresh or juice


1/2 cup dried

0.0
0.0

0
0

60
80

Starch/Bread

varies

25

trace

Vegetable
1/2 cup cooked, or 1 cup raw
0.5
2
25
1
Exchange Lists for Weight Maintenance. Chicago: The American Dietetic Association, 1995.
2
From reference 38.
3
Care must be taken to select fats that provide adequate linoleic and -linolenic acids, such as those high in canola or
soybean oil.

TABLE 20-4. Fat-Free Foods to Help Supply Energy in Low-Fat Diets


Foods/Supplement

Measure

Energy
(kcal)

Carbonated beverages
Corn syrup
Fruit and juice drinks
Hard candy
Jam, jelly
Jell-O
Polycose Glucose Polymers, liquid
Polycose Glucose Polymers, powder
Popsicles , frozen juice bars
Slush Drinks (ie, Mr. Misty )
Syrup

4 fl oz
1 Tbsp
4 fl oz
3 pieces, approx
1 Tbsp
1/4 cup, prepared
1 fl oz
2 Tbsp
1/2 cup
3 fl oz
1 Tbsp

60
57
60
60
50
65
59
45
50
60
55

360 Mitochondrial FAO Defects

2001 Ross Products Division

TABLE 20-5. Mitochondrial FAO Defects Diet Guide


Name:
Date: __________/_________/_________
Mo

Day

Diagnosis:

Year

Birthdate: __________/_________/__________
Mo

Day

Age:

Year

Length/Height: ____________________ (cm/in)

Medical Food

Weight:

Amount

ProViMin

L-carnitine

mg

Glycine

mg

Riboflavin

mg

Skim milk

cups

(kg/lb)

Fat

Protein

Energy

(g)

(g)

(kcal)

Add water to make


_______________ mL/fl oz

Beikost or table foods

Tbsp/Exchanges

Cereals/Starch/Bread
Cereals: With Fruit
Desserts, low fat
Fruits/Juices
Meats, lean
Vegetables

Total per day


Total per kg
Percentage of energy
Comments:

____________________________________________________
Nutritionist

2001 Ross Products Division

Mitochondrial FAO Defects 361

362 Mitochondrial FAO Defects

TABLE 20-6. Mitochondrial FAO Defects Clinical Summary Sheet


Name:

Hospital Number:

Date of Birth: __________/__________/__________


Mo
Date

Day

Physical Data

Laboratory Data

Length/ Weight Head Organic


Height
Circum
acids
(mo/d/yr)

(cm)

(kg)

(cm)

Diagnosis:

Year

(mol/L)

Plasma Carnitine
Total

Free

(mol/L)

(mol/L)

Triene/
Tetraene
Ratio

Nutrient Intake Data

Blood
Glucose

Ferritin

Albumin

Hgb

(mg/dL)

(ng/mL)

(g/dL)

(g/dL)

Fat

(g)

Linoleic Acid

(%)

(g)

(%)

-Linolenic
Acid
(g)

(%)

L-Carn Protein Energy

(mg)

(g)

(kcal)

2001 Ross Products Division

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Mitochondrial FAO Defects 365