About Isovaleric Acidemia
Isovaleric acidemia is an organic acidemia caused by deficiency of isovaleryl-CoA dehydrogenase, an enzyme involved in leucine catabolism. Accumulation of isovaleric acid and its metabolites causes a distinctive 'sweaty feet' body odor and can lead to acute metabolic crises with vomiting, lethargy, and coma. The clinical spectrum ranges from severe neonatal-onset disease to a chronic intermittent form identified through newborn screening.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Isovaleric Acidemia trials.
Newborn screening identification versus symptomatic diagnosis affects disease severity and trial stratification
Plasma isovalerylcarnitine (C5) level is the primary biomarker — document newborn screening results if available
Glycine and carnitine supplementation history should be disclosed as it affects metabolite levels
Mild/asymptomatic newborn-screened patients may qualify for natural history studies rather than interventional trials
Patient Resources
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