| H01161 | |
| H番号 | H01161 |
| 名称 | 芳香族 L- アミノ酸脱炭酸酵素欠損症; AADC欠損症 |
| 概要 | 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. |
| カテゴリ | 神経系疾患 |
| ネットワーク | nt06028(H01161) Dopamine and serotonin metabolism |
| 病因遺伝子 | DDC [HSA:1644] [KO:K01593] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C59.00 ICD-10: G24.8 MeSH: C537437 OMIM: 608643 |
| 文献 | PMID:15079002 著者 Pons R, Ford B, Chiriboga CA, Clayton PT, Hinton V, Hyland K, Sharma R, De Vivo DC タイトル Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. 雑誌 Neurology 62:1058-65 (2004) DOI:10.1212/WNL.62.7.1058 PMID:20505134 著者 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 タイトル Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. 雑誌 Neurology 75:64-71 (2010) DOI:10.1212/WNL.0b013e3181e620ae |