Autosomal recessive metabolic disease.
Synopsis
organic acidemia
episodic ketoacidosis
lacticacidemia
failure to thrive
dysmorphic facies
microcephaly
migrational brain disorder
congenital intracerebral calcification
Laboratory
3-hydroxyisobutyric aciduria
Low free carnitine
High esterified carnitine
3-hydroxyisobutyrate dehydrogenase deficiency