Conditions / Genetic
3-hydroxyisobutryl-CoA hydrolase deficiency
info · Genetic
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 ge
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.
Signs and symptoms
- Lethargy
- Dysmetria
- Agenesis of corpus callosum
- Hypotonia
- Ataxia
- Motor delay
- Failure to thrive
- Nystagmus
- Irritability
- Head titubation
Also known as: HIBCH deficiency; Methacrylic aciduria; Valine metabolic defect