Conditions / Genetic
alpha-methylacyl-CoA racemase deficiency
info · Genetic
A peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p1
A peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1.
Signs and symptoms
- Constriction of peripheral visual field
- Reduced alpha-methylacyl-CoA racemase activity in cultured fibroblasts
- Intention tremor
- Depression
- Cataract
- Elevated circulating phytanic acid concentration
- Rod-cone dystrophy
- Hemiparesis
- Hyperreflexia
- Migraine
Also known as: AMACR deficiency