| Metadata | |
|---|---|
| ID | DOID:0060949 |
| Name | 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. https://pubmed.ncbi.nlm.nih.gov/24299452/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
HIBCH deficiency [EXACT] Methacrylic aciduria [EXACT] Valine metabolic defect [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |