Table 8.

Medium-Chain Acyl-Co A Dehydrogenase Deficiency: Recommended Surveillance

ManifestationEvaluationFrequency/Comment
Abnormal growth, incl poor growth or excessive weight gain 1 Measurement of growth & head circumferenceAt each visit
Delayed acquisition of developmental milestones 2 Monitoring of developmental progress & educational needs
  • Neuropsychological testing using age-appropriate standardized assessment batteries
  • Standardized quality-of-life assessment tools for affected persons & parents/caregivers
As needed
Neurobehavioral issues Behavioral assessment for ADHD
Secondary carnitine deficiency Free carnitine level may be considered.Annually 3

ADHD = attention-deficit/hyperactivity disorder

1.

Prepubertal children may become overweight given the frequent feeding as part of treatment, especially with the increasing incidence of obesity in pediatric and general populations worldwide.

2.

Although development is typically normal for individuals treated prospectively, those who experience metabolic decompensations requiring hospitalization often demonstrate developmental and neurologic disabilities.

3.

Not routinely checked at all metabolic centers

From: Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

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