芳香L-amino酸脱羧酶缺乏症:临床特征、治疗和预后。
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脑桥R,福特B, CA,奇克莱顿PT,辛顿V,后于K, Sharma R, De体内
芳香L-amino酸脱羧酶缺乏症:临床特征、治疗和预后。
神经学。2004年4月13日,62 (7):1058 - 65。
- PubMed ID
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15079002 (在PubMed]
- 文摘
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背景:缺乏芳香L-amino酸脱羧酶(AADC)与严重的发育迟缓,oculogyric危机(OGC),和自主功能障碍。毛与多巴胺受体激动剂和抑制剂的治疗是有益的,但长期预后尚不清楚。目的:描述AADC缺乏症的临床和分子光谱,其管理和长期随访。结果:作者提出六AADC缺乏症患者,从文献回顾7例。所有的病人显示减少儿茶酚胺代谢产物和海拔3-O-methyldopa CSF。剩余等离子AADC正常活动范围从探测不到8%。突变谱异构。所有患者出现肌张力减退、运动功能减退[,自主神经功能失调的迹象,因为早期的生活。周日变动或改善症状后睡眠在一半的病人。治疗反应是变量。 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. CONCLUSIONS: 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.