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
-
- GARD:13202
- MIM:250620
- ORDO:88639
- Ontology
- Human Disease ( DOID:0060949 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models
Citations