ABSTRACT
Reye-like episodes of ketoacidosis, hypoglycemia, hyperammonemia, and coma; seizures, failure to thrive, excretion of 3-methylcrotonylglycine and 3-hydroxyisovaleric acid; and deficiency of 3-methylcrotonylCoA carboxylase. An increasing population of asymptomatic individuals, many of them adult women discovered because of elevated 3-hydroxyisovalerylcarnitine detected in the neonatal screening blood spots of their infants.
