Pons R, Ford B, Chiriboga C A, Clayton P T, Hinton V, Hyland K, Sharma R, De Vivo D C
Department of Neurology, College of Physicians and Surgeons of Columbia University, New York, NY, USA.
Neurology. 2004 Apr 13;62(7):1058-65. doi: 10.1212/wnl.62.7.1058.
Deficiency of aromatic L-amino acid decarboxylase (AADC) is associated with severe developmental delay, oculogyric crises (OGC), and autonomic dysfunction. Treatment with dopamine agonists and MAO inhibitors is beneficial, yet long-term prognosis is unclear.
To delineate the clinical and molecular spectrum of AADC deficiency, its management, and long-term follow-up.
The authors present six patients with AADC deficiency and review seven cases from the literature. All patients showed reduced catecholamine metabolites and elevation of 3-O-methyldopa in CSF. Residual plasma AADC activity ranged from undetectable to 8% of normal. Mutational spectrum was heterogeneous. All patients presented with hypotonia, hypokinesia, OGC, and signs of autonomic dysfunction since early life. Diurnal fluctuation or improvement of symptoms after sleep were noted in half of the patients. Treatment response was variable. Two groups of patients were detected: Group I (five males) responded to treatment and made developmental progress. Group II (one male, five females) responded poorly to treatment, and often developed drug-induced dyskinesias.
The molecular and clinical spectrum of AADC deficiency is heterogeneous. Two groups, one with predominant male sex and favorable response to treatment, and the other with predominant female sex and poor response to treatment, can be discerned.
芳香族L-氨基酸脱羧酶（AADC）缺乏与严重发育迟缓、动眼危象（OGC）和自主神经功能障碍有关。多巴胺激动剂和单胺氧化酶抑制剂治疗有益，但长期预后尚不清楚。
描述AADC缺乏的临床和分子谱系、其管理及长期随访情况。
作者报告了6例AADC缺乏患者，并复习了文献中的7例病例。所有患者脑脊液中儿茶酚胺代谢产物减少，3-O-甲基多巴升高。残余血浆AADC活性范围从检测不到到正常的8%。突变谱是异质性的。所有患者自幼年起均出现肌张力减退、运动减少、动眼危象和自主神经功能障碍体征。半数患者出现症状的昼夜波动或睡眠后症状改善。治疗反应不一。检测到两组患者：第一组（5名男性）对治疗有反应并取得发育进展。第二组（1名男性，5名女性）对治疗反应不佳，且常出现药物性运动障碍。
AADC缺乏的分子和临床谱系是异质性的。可以区分出两组，一组以男性为主且对治疗反应良好，另一组以女性为主且对治疗反应不佳。
