| H01161 | |
| H number | H01161 |
| 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 |
| Network | nt06028(H01161) Dopamine and serotonin metabolism |
| Gene | DDC [HSA:1644] [KO:K01593] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C59.00 ICD-10: G24.8 MeSH: C537437 OMIM: 608643 |
| Reference | PMID:15079002 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 PMID:20505134 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 |