KEGG   DISEASE: H01161Help
Entry
H01161                      Disease                                

Name
Aromatic L-amino acid decarboxylase (AADC) deficiency
Description
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.
Category
Nervous system disease
BRITE hierarchy
Pathway
Tyrosine metabolism
Tryptophan metabolism
Serotonergic synapse
Dopaminergic synapse
Gene
DDC [HSA:1644] [KO:K01593]
Marker
Low homovanillic acidHomovanillic acid [CPD:C05582], 5-hydroxyindoleacetic acid [CPD:C05635], and 3-methoxy-4-hydroxy-phenylglycol [CPD:C05594]
Elevated 3-O-methyl-L-dopa, L-dopa [CPD:C00355], and 5-hydroxytryptophan [CPD:C01017]
Drug
Dopamine agonists: Bromocriptine [DR:D03165] or Pergolide [DR:D08339]
MAO inhibitors: Selegiline [DR:D03731]
Pyridoxine [DR:D02179]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Pons R, Ford B, Chiriboga CA, Clayton PT, Hinton V, Hyland K, Sharma R, De Vivo DC
  Title
Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis.
  Journal
Neurology 62:1058-65 (2004)
Reference
  Authors
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
  Title
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency.
  Journal
Neurology 75:64-71 (2010)

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