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3-hydroxyisobutyrate aciduria

Wednesday 11 May 2005

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