3-hydroxyisobutyrate aciduria
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
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