ORPHA:35708
Aromatic L-amino acid decarboxylase deficiency
Also called AADC deficiency
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Infancy, Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:35708 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Global developmental delay
- Decreased CSF homovanillic acid concentration
- Decreased CSF 5-hydroxyindolacetic acid concentration
- Atypical behavior
- Irritability
- Hyperhidrosis