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 specific amino acids into these important chemicals.
Individuals with this deficiency may experience a range of symptoms, including developmental delays, movement disorders, and mood disturbances. Early diagnosis and treatment are crucial for managing symptoms and improving quality of life. Treatment often involves medications to help manage neurotransmitter levels and supportive therapies.