Wolf B, Heard G S, Weissbecker K A, McVoy J R, Grier R E, Leshner R T
Ann Neurol. 1985 Nov;18(5):614-7. doi: 10.1002/ana.410180517.
Biotinidase deficiency is the primary defect in most individuals with late-onset multiple carboxylase deficiency. We have reviewed the presenting clinical features of 31 children with the disorder. Seizures, either alone or with other neurological or cutaneous findings, are the most frequent initial symptom observed. Other neurological symptoms, such as hypotonia, ataxia, hearing loss, optic atrophy, and developmental delay, are seen, in addition to skin rash and alopecia. The disorder is also characterized by ketolactic acidosis and organic aciduria. Biotinidase activity may be diagnosed using a simple, rapid, semiquantitative colorimetric procedure. Samples of whole blood spotted on the same filter paper used by most states to screen for phenylketonuria and other inborn errors of metabolism may be sent to an appropriate reference laboratory. None of the common anticonvulsants or sedatives used to treat newborns and children interfere with the test. Because biotinidase deficiency can be treated readily with biotin, this disorder should be considered in children with infantile seizures, especially in the presence of other characteristic neurological or cutaneous features.
生物素酶缺乏症是大多数迟发性多种羧化酶缺乏症患者的主要缺陷。我们回顾了31例患有该疾病儿童的临床表现。癫痫发作，无论是单独出现还是伴有其他神经或皮肤表现，是最常见的初始症状。除皮疹和脱发外，还可见其他神经症状，如肌张力减退、共济失调、听力丧失、视神经萎缩和发育迟缓。该疾病还具有酮乳酸酸中毒和有机酸尿症的特征。生物素酶活性可以通过一种简单、快速的半定量比色法进行诊断。采集于大多数州用于筛查苯丙酮尿症和其他先天性代谢缺陷的同一张滤纸上的全血样本，可送至合适的参考实验室。用于治疗新生儿和儿童的常见抗惊厥药或镇静剂均不干扰该检测。由于生物素酶缺乏症可用生物素轻松治疗，因此对于患有婴儿期癫痫发作的儿童，尤其是伴有其他特征性神经或皮肤表现的儿童，应考虑该疾病。
