Orphanet: Aromatic L amino acid decarboxylase deficiency
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Aromatic L-amino acid decarboxylase deficiency

Disease definition

A rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to impaired synthesis of dopamine, noradrenaline, adrenaline and serotonin. Clinical manifestations are typically characterized by early-onset muscular hypotonia, movement disorders (oculogyric crisis, dystonia), developmental delay, ptosis and non-motor symptoms (sleep disturbance, irritability, excessive sweating, and nasal congestion).

ORPHA:35708

Classification level: Disorder
  • Synonym(s):
    • AADC deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: G24.8
  • OMIM: 608643
  • UMLS: C0342686  C1291564
  • MeSH: -
  • GARD: 770
  • MedDRA: -

Detailed information

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