KEGG   DISEASE: Aromatic L-amino acid decarboxylase deficiency
Entry
H01161                      Disease                                
Name
Aromatic L-amino acid decarboxylase 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
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H01161  Aromatic L-amino acid decarboxylase deficiency
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C59  Inborn errors of neurotransmitter metabolism
     H01161  Aromatic L-amino acid decarboxylase deficiency
Related
pathway
hsa00350  Tyrosine metabolism
hsa00380  Tryptophan metabolism
hsa04726  Serotonergic synapse
hsa04728  Dopaminergic synapse
Gene
DDC [HSA:1644] [KO:K01593]
Other DBs
ICD-11: 5C59.00
ICD-10: G24.8
MeSH: C537437
OMIM: 608643
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)
DOI:10.1212/WNL.62.7.1058
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)
DOI:10.1212/WNL.0b013e3181e620ae
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