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Definition

An autosomal recessive inborn error of valine metabolism. It causes severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia.

Acronym

HIBCHD

Synonyms

Beta-hydroxyisobutyryl CoA deacylase deficiency
Deficiency of beta-hydroxyisobutyryl CoA deacylase
HIBCH deficiency
Methacrylic acid toxicity
Methacrylic aciduria
Valine metabolic defect