Rare Zebra

Rare disease search prototype built on Orphanet data

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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