Metadata | |
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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 |