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Orphanet References OMIM Gene GeneReviews HGMD HGNC
last update : 9/04/08
Symbol DDC
Location 7p12.1
Name DOPA decarboxylase deficiency
Other name(s)
  • aromatic L-amino acid decarboxylase deficiency
  • DDC deficiency
  • Corresponding gene DDC
    Other symbol(s) AADC
    Main clinical features
  • in infancy hypotonia, paroxysmal episodes of inconsolable crying with eyes 'rolling backwards', extension of extremities, and temperature instability
  • severe developmental delay, profound hypotonia, and increased muscle tone in the extremities with brisk tendon reflexes and extensor plantar responses
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Gene product
    Name DOPA decarboxylase (DDC)
    Genotype/Phenotype correlations missense mutation (853C > T) in exon 8, leading to mild phenotype and showed excellent response to MAO inhibitor and dopamine agonist treatment