Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0060949 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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