Aromatic amino acid decarboxylase deficiency

An autosomal recessive inborn error in neurotransmitter metabolism that leads to combined SEROTONIN and CATECHOLAMINE deficiency and is clinically characterized by vegetative symptoms, oculogyric crises, DYSTONIA, and severe neurologic dysfunction, usually beginning in infancy or childhood. Caused by mutations in the DDC gene. OMIM: 107930

Also Known As:

AADC deficiency Aromatic L-amino acid decarboxylase deficiency; Aromatic L-amino acid decarboxylase deficiency; DDC deficiency; Dopa decarboxylase deficiency

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Amino Acid Metabolism: 1
      - Aromatic amino acid decarboxylase deficiency: 77
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Amino Acid Metabolism: 1
      - Aromatic amino acid decarboxylase deficiency: 77
Enzymes and Coenzymes: 1
- Enzymes: 155591
  - Lyases: 659
    - Carbon-Carbon Lyases
      - Carboxy-Lyases: 626
        Aromatic-L-Amino-Acid Decarboxylases: 206
        Aromatic amino acid decarboxylase deficiency: 77

Elena Buelli Selected Research

Elena Buelli Research Topics

Disease

Drug/Important Bio-Agent (IBA)

Therapy/Procedure