Disease

3-hydroxyisobutryl-CoA hydrolase deficiency

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.
Synonyms
  • HIBCH deficiency
  • Methacrylic aciduria
Cross References
Parent Terms
Child Terms
None
Sources of Associations

Associated Genes

Associated Alleles

Associated Models