3-hydroxyisobutryl-CoA hydrolase deficiency

Term ID

DOID:0060949

Synonyms

• HIBCH deficiency
• Methacrylic aciduria
• Valine metabolic defect

Definition

An amino acid metabolic disorder characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32. https://pubmed.ncbi.nlm.nih.gov/24299452/

References

• GARD:13202
• MIM:250620
• ORDO:88639

Ontology

Human Disease   ( DOID:0060949 )