Nutrition Interventions for Children with Special Health Care Needs

Appendix R
Condition Description Nutritional Implications/Problems
Restrict galactose, possible growth problems, use soy
formula
Galactosemia3 Abnormal galactose-1-phosphate uridyl transferase, possible
cataracts, liver disease, developmental delay
Growth problems, restrict branched chain amino acids,
supplement L-carnitine
Maple syrup urine disease3 Abnormal oxidative decarboxylation of branched chain keto
acids, can lead to mental retardation, seizures, and death
Restrict methionine, protein, supplement cystine, folate,
betaine, possibly vitamin B6 Homocystinuria3 Abnormal cystathionine-β-synthase, possible mental
retardation, detached retinas, thromboembolic and cardiac
disease
Tyrosinemia, type 13 Abnormal fumarylacetoacetate hydrolase causes liver disease Restrict tyrosine, phenylalanine, prescribe nitisinone
(Orfadin®)
Nephrogenic Diabetes Insipidus3 Hereditary non-responsiveness to antidiuretic hormone Restrict sodium, protein; increased water requirements,
provide chlorothiazide, delayed puberty
Restrict protein; supplement bicitra, L-carnitine, avoid
fasting
Ketone Utilization Disorders3 Lack of enzyme(s) necessary to process ketones when
catabolic, vomiting, dehydration, ↑ ketones in urine
Cerebral degeneration and storage of mucopolysaccarides Oral-motor problems, constipation
Mucopolysaccharidoses, e.g., Hunter,
Hurler, San filippo, Morquio syndromes3 Possible oral-motor problems, avoid fasting, need for ↑
CHO, L-carnitine, ↓ fat, avoid non-metabolized fatty acids,
supplement with MCT oil for VLCAD, LCAD
382 Nutrition Interventions for Children With Special Health Care Needs
Disorder of β-oxidation of fatty acids of specific chain lengths,
vomiting, lethargy, hypoglycemia
Fatty Acid Oxidation Disorders (VLCAD,
LCAD, MCAD, SCAD) 3*
Supplement raw cornstarch, restrict fat, increase complex
CHO, avoid lactose, supplement iron, calcium use
soy formula, prescribe granulocyte colony stimulating
factor(GCSF) (for type Ib)
Defect in one of several enzymes that affect the use and
storage of glycogen, ↑ liver size, severe hypoglycemia, ↑
cholesterol, triglycerides, infections in some types
Glycogen Storage Diseases (Ia, Ib, III,
IV) 3
Storage of GM 2 gangliosides, usually cerebral degeneration Oral-motor problems, constipation
Sphingolipidoses, e.g., Gaucher, Nieman-
Pick, Krabbe, Tay-Sachs diseases3 Oral-motor problems, restrict copper intake
Wilson’s disease1,3 Abnormal storage of copper leads to renal, cardiac, pancreatic
and liver disease and/or central nervous system manifestations
Growth problems, oral-motor problems, air swallowing
Mitochondrial disorders 3 A heterogenous group of disorders, result of dysfunction of
the mitochondrial respiratory chain, muscle, neurological, GI,
cardiac problems, poor growth, developmental delay, seizures