Visualize Submit Comment
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

GARD:13202

MIM:250620

ORDO:88639

Subsets

DO_rare_slim

Synonyms

HIBCH deficiency [EXACT]

Methacrylic aciduria [EXACT]

Valine metabolic defect [EXACT]

Parent Relationships

is_a amino acid metabolic disorder

is_a autosomal recessive disease

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

Add an item to the term tracker