PHENOTYPIC VARIATION IN BIOTINIDASE DEFICIENCY
PHENOTYPIC VARIATION IN BIOTINIDASE DEFICIENCY
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DOI：
10.1016/s0022-3476(83)80351-5
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发表时间：
1983-01-01
影响因子：
5.1
通讯作者：
HURST, DL
中科院分区：
文献类型：
--
作者：
WOLF, B;GRIER, RE;HURST, DL
生物素酶缺乏症是生物素反应性迟发性多重羧化酶缺乏症（MCD）中常见的生化缺陷。我们回顾了6例酶缺乏症患者的临床特征，并与文献中描述的晚发型MCD儿童的特征进行了比较。在所有报告的先知者中，MCD被诊断为除了癫痫、共济失调、皮疹和脱发等各种神经和皮肤症状外，还伴有代谢性酮症酸中毒和有机酸尿症。虽然在一些患者中，生物素酶缺乏症也被诊断出来，因为他们表现出类似的发现范围，但其他人从未出现酮症酸中毒或有机酸尿症。生物素酶缺乏的初始特征通常包括神经系统或皮肤症状，而有机酸尿和MCD是该疾病的延迟继发性表现。生物素酶缺乏症应考虑在任何婴儿或儿童有任何这些神经或皮肤的发现，有或没有酮症酸中毒或有机酸尿症。如果诊断不能排除，这些个体应给予生物素药理学剂量的治疗试验。
Biotinidase deficiency is the usual biochemical defect in biotin-responsive late-onset multiple carboxylase deficiency (MCD). The clinical features of 6 patients with the enzyme deficiency were reviewed and were compared with features described in the literature in children with late-onset MCD. In all of the reported probands, MCD was diagnosed because they had metabolic ketoacidosis and organic aciduria in addition to various neurologic and cutaneous symptoms, such as seizures, ataxia, skin rash and alopecia. Although in several of the patients biotinidase deficiency was also diagnosed because they manifested a similar spectrum of findings, others never had ketoacidosis or organic aciduria. The initial features of biotinidase deficiency usually include neurologic or cutaneous symptoms, whereas organic aciduria and MCD are delayed, secondary manifestations of the disease. Biotinidase deficiency should be considered in any infant or child with any of these neurologic or cutaneous findings, with or without ketoacidosis or organic aciduria. If the diagnosis cannot be excluded, such individuals should be given a therapeutic trial of pharmacologic doses of biotin.