芳香族 L-氨基酸脱羧酶缺陷的临床和生化特征
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency
本研究汇总了 78 例 AADC 缺陷患者的临床和生化数据，其中 32 例为新报告病例。96% 的患者在婴儿期或儿童期出现症状，包括肌张力低下、动眼危象和发育迟缓。诊断基于脑脊液神经递质代谢物特征性改变和血浆 AADC 活性缺失。在 49 例患者中检测到 24 种 DDC 基因突变，其中 IVS6+4A>T 最常见。治疗选择有限，多数患者预后不确定，仅部分轻型患者对联合治疗有改善。
为什么推荐给您：2010 年发表的较大规模病例系列，系统描述临床特征与基因突变谱，属常规疾病自然史研究。
不需要生物学背景，多打比方
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摘要Abstract
OBJECTIVE: To describe the current treatment; clinical, biochemical, and molecular findings; and clinical follow-up of patients with aromatic l-amino acid decarboxylase (AADC) deficiency.
METHOD: Clinical and biochemical data of 78 patients with AADC deficiency were tabulated in a database of pediatric neurotransmitter disorders (JAKE). A total of 46 patients have been previously reported; 32 patients are described for the first time.
RESULTS: In 96% of AADC-deficient patients, symptoms (hypotonia 95%, oculogyric crises 86%, and developmental retardation 63%) became clinically evident during infancy or childhood. Laboratory diagnosis is based on typical CSF markers (low homovanillic acid, 5-hydroxyindoleacidic acid, and 3-methoxy-4-hydroxyphenolglycole, and elevated 3-O-methyl-l-dopa, l-dopa, and 5-hydroxytryptophan), absent plasma AADC activity, or elevated urinary vanillactic acid. A total of 24 mutations in the DDC gene were detected in 49 patients (8 reported for the first time: 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.