KEGG   DISEASE: Aromatic L-amino acid decarboxylase (AADC) deficiencyHelp
H01161                      Disease                                

Aromatic L-amino acid decarboxylase (AADC) deficiency
Aromatic L-amino acid decarboxylase (AADC) deficiency is an autosomal recessive disorders of monoamine neurotransmitter metabolism, clinically characterized by vegetative symptoms, oculogyric crises, dystonia, and severe neurologic dysfunction in infancy. Mutations in the gene encoding for the enzyme AADC (DDC) lead to a severe combined deficiency of serotonin and the two catecholamines dopamine and norepinephrine.
Nervous system disease
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H01161  Aromatic L-amino acid decarboxylase (AADC) deficiency
Human diseases in ICD-10 classification [BR:br08403]
 6. Diseases of the nervous system (G00-G99)
  G20-G26  Extrapyramidal and movement disorders
   G24  Dystonia
    H01161  Aromatic L-amino acid decarboxylase (AADC) deficiency
BRITE hierarchy
hsa00350  Tyrosine metabolism
hsa00380  Tryptophan metabolism
hsa04726  Serotonergic synapse
hsa04728  Dopaminergic synapse
DDC [HSA:1644] [KO:K01593]
Other DBs
ICD-10: G24.8
MeSH: C537437
OMIM: 608643
Pons R, Ford B, Chiriboga CA, Clayton PT, Hinton V, Hyland K, Sharma R, De Vivo DC
Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis.
Neurology 62:1058-65 (2004)
Brun L, Ngu LH, Keng WT, Ch'ng GS, Choy YS, Hwu WL, Lee WT, Willemsen MA, Verbeek MM, Wassenberg T, Regal L, Orcesi S, Tonduti D, Accorsi P, Testard H, Abdenur JE, Tay S, Allen GF, Heales S, Kern I, Kato M, Burlina A, Manegold C, Hoffmann GF, Blau N
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency.
Neurology 75:64-71 (2010)

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