Nutrition Interventions for Children with Special Health Care Needs

Table 21-2: Biochemical Parameters to Monitor in Children with Metabolic Disorders*
Disorder Parameter Frequency
All disorders Hematocrit, hemoglobin, ferritin Twice per year, depending on age and
health status
Prealbumin Twice per year, depending on age and
health status
At each clinic visit
Length or height, weight, weight/height, head
circumference, BMI
Monthly, at each clinic visit
Intake of medical food and foods as
contributors of critical nutrients
Monthly, at each clinic visit
Protein, energy, fat, nutrients critical to
specific metabolic disorder
Section 3 - Condition-Specific Nutrition Interventions
Phenylketonuria (PKU) Plasma phenylalanine, tyrosine Monthly, if child is well, more frequently
if ill
Tyrosinemia Plasma tyrosine, phenylalanine, methionine Monthly, if child is well, more frequently
if ill
Nutrition Interventions for Children With Special Health Care Needs 245
Monthly, if child is well, more frequently
if ill
Maple syrup urine disease (MSUD) Plasma leucine, isoleucine, valine,
alloisoleucine
At each clinic visit, more frequently if ill
or illness is suspected
Plasma ammonia, electrolytes, plasma
carnitine, plasma amino acids
Urea Cycle Disorders, eg, Ornithine
transcarbamylase deficiency (OTC), Carbamyl
phosphate synthetase deficiency (CPS),
Argininosuccinic aciduria (ASA)
At each clinic visit, more frequently if
illness is suspected
Urine organic acids, electrolytes, plasma
carnitine, plasma amino acids
Organic acidemias, eg, Methylmalonic aciduria,
Propionic aciduria, Isovaleric aciduria
If illness is suspected
Ketone utilization disorder Urine organic acids, plasma carnitine,
electrolytes, serum ketones
Galactosemia Galactose-1-phosphate At each clinic visit
*Table adapted from: Trahms CM, Ogata BN. Medical nutritional therapy for genetic metabolic disorders. In: Mahan LK, EscottStump S, eds.
Krause’s Food, Nutrition, and Diet Therapy, 12 th ed. Elsevier; 2008 6 .