Leaky splicing variant in sepiapterin reductase deficiency
Leaky splicing variant in sepiapterin reductase deficiency
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DOI：
10.1212/nxg.0000000000000319
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发表时间：
2019-03
期刊：
影响因子：
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通讯作者：
Y. Nakagama;K. Hamanaka;M. Mimaki;H. Shintaku;S. Miyatake;N. Matsumoto;Koji Hirohata;R. Inuzuka;A. Oka
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文献类型：
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作者：
Y. Nakagama;K. Hamanaka;M. Mimaki;H. Shintaku;S. Miyatake;N. Matsumoto;Koji Hirohata;R. Inuzuka;A. Oka
Sepiapterin还原酶缺乏症（SRD）是一种极其罕见但可治疗的神经递质疾病，是四氢生物蝶呤（BH4）合成最后一步的酶缺陷。1与其他形式的BH4缺乏型多巴反应性肌张力障碍不同，SRD独特地不表现高苯丙氨酸血症，因此通过新生儿筛查检测。由于其多变的表现特征和对敏感的CSF分析方法的需求，SRD的诊断可能会在轻度表型中受到影响。
Sepiapterin reductase deficiency (SRD), an extremely rare but treatable neurotransmitter disease, is an enzyme defect in the final step of tetrahydrobiopterin (BH4) synthesis.1 Unlike other forms of BH4-deficient dopa-responsive dystonia, SRD uniquely does not manifest hyperphenylalaninemia and thus slips through detection by newborn screening. Owing to its variable presenting features and need for a sensitive method of CSF analysis, diagnosis of SRD may be compromised in mild phenotypes.2