CEREBROSPINAL-FLUID ORGANIC-ACIDS IN BIOTINIDASE DEFICIENCY
CEREBROSPINAL-FLUID ORGANIC-ACIDS IN BIOTINIDASE DEFICIENCY
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DOI：
10.1007/bf00711668
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发表时间：
1993-01-01
影响因子：
4.2
通讯作者：
POLLTHE, BT
中科院分区：
文献类型：
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作者：
DURAN, M;BAUMGARTNER, ER;POLLTHE, BT
生物素酶缺乏 (McKusick 253260) 会导致维生素生物素逐渐缺乏，维生素生物素是丙酮酸、丙酰辅酶 A、3-甲基巴豆酰辅酶 A 和乙酰辅酶 A 羧化反应的重要辅助因子。这种疾病通常表现为肌张力低下、抽搐和共济失调等神经系统症状，而皮疹和脱发通常出现较晚。如果延误治疗，可能会导致不可逆的脑损伤，例如视神经萎缩和神经感觉性听力损失。神经功能障碍似乎比全羧化酶合成酶（HCS）缺乏症、丙酸血症或孤立的3-甲基巴豆酰辅酶A羧化酶（MCC）缺乏症中观察到的更为严重。因此，对脑脊液有机酸谱的研究是相关的。迄今为止，只有少数关于该主题的报告出现，表明脑脊液乳酸水平异常高（Di Rocco 等人，1984 年；Diamantopoulos 等人，1986 年；Fois 等人，1986 年）。在这里，我们报告了一系列生物素酶缺乏症患者的详细脑脊液有机酸分析，并将其与 HCS 和孤立的 MCC 缺乏症患者的结果进行了比较。
Biotinidase deficiency (McKusick 253260) leads to a progressive deficiency of the vitamin biotin, an essential cofactor for the carboxylation reactions of pyruvate, propionyl-CoA, 3-methylcrotonyl-CoA and acetyl-CoA. This disease usually presents with neurological symptoms such as hypotonia, convulsions and ataxia, while skin rash and alopecia usually appear later. If treatment is delayed, irreversible brain damage such as optic atrophy and neurosensory hearing loss may result. The neurological dysfunction appears to be more severe than that observed in holocarboxylase synthetase (HCS) deficiency, propionic acidaemia or isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency. A study of the CSF organic acid profile is thus relevant. To date only a few reports on this topic have appeared, demonstrating unusually high CSF lactate levels (Di Rocco et al 1984; Diamantopoulos et al 1986; Fois et al 1986). Here we report detailed CSF organic acid analyses in a series of patients with biotinidase deficiency that are compared with those obtained in HCS and isolated MCC deficiency.