Nutrition Interventions for Children with Special Health Care Needs

Chapter 21
Section 3 - Condition-Specific Nutrition Interventions
Nutrition Interventions for Children
With Metabolic Disorders
Cristine Trahms, MS, RD, CD, FADA and
Beth Ogata, MS, RD, CSP, CD
Most inherited metabolic disorders are associated with severe illness that often
appears soon after birth. Neurologic impairment and mental retardation may occur.
However, effective newborn screening programs and advanced diagnostic techniques
and treatment modalities have improved the outcome for many of these infants
(1,2,3).
Advances in newborn screening technology offer the potential for earlier diagnosis,
prevention of neurologic crisis, and improved intellectual and physical outcomes.
When tandem mass spectrometry techniques are used in newborn screening
laboratories, infants with a broader range of metabolic disorders can be identified,
and identification can be earlier than ever before (3).
The goal of treatment for inborn errors of metabolism is to strive for correction of
the biochemical abnormality. The approach to treatment for each disorder depends
on the enzyme(s) affected and the metabolic consequences of that effect (1,2).
Without effective nutritional therapy many children with metabolic disorders would
not survive infancy or would have severe cognitive and physical problems. Outcome
of treatment for metabolic disorders is variable and depends on early diagnosis and
intensive intervention (1,2,3).
For children with metabolic disorders, appropriate growth reflects the achievement
of metabolic balance. In addition to a limited energy intake, inadequate weight gain
may reflect a chronic elevation in ammonia levels or chronic acidosis. If growth
and development are to proceed normally, energy and all required nutrients must
be provided in adequate amounts. At the same time, controlling the biochemical
abnormality necessitates the restriction of nutrients specific to the disorder to the
requirement level (4,5,6).
Most children with metabolic disorders require the restriction of one or more
nutrients or dietary components. These restrictions are specific to each disorder
Nutrition Interventions for Children With Special Health Care Needs 237