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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

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice.