Amino Acid Decarboxylation Disorders
Amino Acid Decarboxylation Disorders are a group of rare genetic conditions that affect the body's ability to convert certain amino acids into neurotransmitters. This process involves the removal of a carboxyl group from amino acids, which is essential for producing important chemicals like serotonin and dopamine. When this process is disrupted, it can lead to various neurological and developmental issues.
Symptoms of these disorders can vary widely but often include movement problems, seizures, and cognitive impairments. Diagnosis typically involves genetic testing and biochemical analysis to identify specific enzyme deficiencies. Early intervention and treatment can help manage symptoms and improve quality of life for affected individuals.