Aromatic L-amino acid decarboxylase deficiency
Aromatic L-amino acid decarboxylase deficiency is a rare genetic disorder that affects the body's ability to produce certain neurotransmitters, including dopamine and serotonin. This condition is caused by mutations in the DDC gene, which is responsible for producing the enzyme needed to convert aromatic amino acids into these important chemicals. Symptoms often appear in infancy or early childhood and can include developmental delays, movement disorders, and mood disturbances.
Diagnosis typically involves genetic testing and measuring levels of neurotransmitters in the body. Treatment may include medications to manage symptoms and dietary adjustments to support overall health. Early intervention is crucial for improving outcomes and quality of life for affected individuals.