TY - T1的临床和生化特征的芳香L-amino酸脱羧酶缺乏症JF -神经学乔-神经病学SP - 64 LP - 71 - 10.1212 / WNL。首页0 b013e3181e620ae六世- 75 - 1 AU - l·布朗盟L.H. Ngu AU -地下水面璟AU - 9具非盟-屈服强度的油菜心盟柔若胡盟。李盟- M.A.A.P. Willemsen盟M.M. Verbeek AU - t . Wassenberg AU - l .君威AU - s Orcesi AU - d . Tonduti盟p Accorsi AU - h . Testard盟J.E. Abdenur AU -美国泰盟G.F.艾伦盟-美国希尔AU - i Kern盟- m .加藤盟- a Burlina AU - c . Manegold盟G.F.霍夫曼AU - n·布劳Y1 - 2010/07/06 UR - //www.ez-admanager.com/content/75/1/64.abstract N2 -目的:描述当前的治疗;首页临床、生化和分子的发现;和临床随访的患者芳香l-amino酸脱羧酶(AADC)缺乏症。方法:78例临床和生化数据AADC缺陷列表在儿科神经递质紊乱(杰克)的数据库。共有46名患者曾被报导过;32名患者首次被描述。AADC-deficient结果:96%的患者,症状(张力减退95%,oculogyric危机86%,发育迟缓63%)成为临床上明显在婴儿或儿童。实验室诊断是基于典型的CSF标记(低高香草酸、5-hydroxyindoleacidic酸,3-methoxy-4-hydroxyphenolglycole 3-O-methyl-l-dopa升高,左旋多巴,和5-hydroxytryptophan),等离子体AADC缺席活动,或尿vanillactic酸升高。总共有24个,DDC基因的突变检测49例(8首次报道:p。L38P, p。Y79C, p。A110Q, p.G123R, p.I42fs, c.876G>A, p.R412W, p.I433fs) with IVS6+ 4A>T being the most common one (allele frequency 45%). Conclusion: Based on clinical symptoms, CSF neurotransmitters profile is highly indicative for the diagnosis of aromatic l-amino acid decarboxylase deficiency. Treatment options are limited, in many cases not beneficial, and prognosis is uncertain. Only 15 patients with a relatively mild form clearly improved on a combined therapy with pyridoxine (B6)/pyridoxal phosphate, dopamine agonists, and monoamine oxidase B inhibitors. ER -

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