3-Hydroxyisobutyryl-CoA deacylase deficiency

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.

History
This condition was first described in 1982.