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3-Hydroxyisobutyryl-CoA deacylase deficiency
? TBD
Autosomal recessive condition
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3-Hydroxyisobutyryl-CoA deacylase deficiency is a rare autosomal recessive condition that is associated with severely delayed psychomotor development, neurodegeneration, increased lactic acid and brain lesions in the basal ganglia. Fewer than 10 patients have been described with this condition.

Instance of
Rare disease
class of disease
Subclass of
neurometabolic disease
Wikidata