Table 7.

Classic Isovaleric Acidemia: Recommended Surveillance

ManifestationEvaluationFrequency/Comment
Nutrition/
Growth 		Quantitative analysis of plasma amino acids (ideally sent after a 3-hour protein fast)
  • At least every 3 months until age 1 year
  • Every 6 months from ages 1-6 years
  • Annually age ≥6 years
Laboratory testing (blood gases, albumin, calcium, phosphate, parathyroid hormone, complete blood count, vitamin B12)At least annually in those on protein-restricted diet
Measurement of growth & head circumferenceAt each visit throughout childhood; continue to monitor weight throughout adulthood
Development Monitor developmental milestones.At each visit
  • Neuropsychological testing using age-appropriate standardized assessments
  • Standardized quality-of-life assessment tools for affected persons & parents/caregivers
As needed
Movement disorder Assessment for clinical manifestations of movement disorders, severity, & response to treatment (physical therapy & pharmacologic interventions)At each visit

From: Classic Isovaleric Acidemia

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