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MIRAGE
3-hydroxyisobutryl-CoA hydrolase deficiency
Summary
- Synonym
-
- 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.
- Super Class
- amino acid metabolic disorder autosomal recessive disease
External Links
- Disease Ontology
- DOID:0060949
- Mondo Disease Ontology
- ORDO
- GARD
