alpha-methylacyl-CoA racemase deficiency
A rare disorder caused by mutation in the AMACR gene. Racemization is the prerequisite to beta-oxidation for branched chain fatty acids and bile acids. It is characterized by neurological abnormalities that appear in adulthood and include cognitive decline, seizures, and sensorimotor neuropathy. AMACR deficiency rarely presents as liver disease in infancy.
What is alpha-methylacyl-CoA racemase deficiency?
alpha-methylacyl-CoA racemase deficiency is a medical condition. A condition is a disease, disorder, or abnormal state that affects the body or mind. This page provides educational information only and is not a diagnosis.
If you think you may have alpha-methylacyl-CoA racemase deficiency, speak with a qualified healthcare provider for evaluation and guidance.
Symptoms that may be associated with alpha-methylacyl-CoA racemase deficiency
When to seek medical care
Seek medical advice if you have symptoms that are severe, persistent, or affecting your daily life. Emergency care is needed for symptoms like chest pain, difficulty breathing, confusion, or severe weakness.