NIH

Zebra of the Week: Aromatic L-amino acid decarboxylase deficiency

November 19, 2024

Aromatic l-amino acid decarboxylase (AADC) deficiency is a genetic disorder that impairs the synthesis of neurotransmitters, which are crucial for communication between nerve cells. When neurotransmitter production is disrupted, it leads to various neurological issues. Patients with this condition often experience difficulties with movement coordination, particularly affecting the head, face, and neck. Additionally, they may face challenges in regulating autonomic functions such as blood pressure, heart rate, and body temperature. This deficiency arises from mutations in the DDC gene and is inherited in an autosomal recessive pattern. Diagnosis typically involves a lumbar puncture and blood tests that reveal abnormalities in neurotransmitter levels and related enzymes, with genetic testing serving as a confirmatory tool.

About Aromatic L-amino acid decarboxylase deficiency

• Population estimate: Fewer than 1,000 people in the U.S. have this disease.
• Symptoms: May start to appear as a newborn and as an infant.
• Cause: This disease is caused by a change in the genetic material (DNA).

Source:

NIH: Genetic and Rare Diseases Information Center. Aromatic L-amino acid decarboxylase deficiency. https://rarediseases.info.nih.gov/diseases/770/aromatic-l-amino-acid-decarboxylase-deficiency