Sutherland S J, Olsen R D, Michels V, Schmidt M A, O'Brien J F
Department of Medical Genetics, Mayo Clinic and Foundation, Rochester, MN 55905.
Clin Pediatr (Phila). 1991 Feb;30(2):81-4. doi: 10.1177/000992289103000203.
To test the hypothesis that the frequency of biotinidase deficiency is greater in children with unexplained developmental delay or neurologic abnormalities than in the general population, we studied children seen at a large outpatient clinic over a four-year period who had one or more of these neurologic abnormalities and for whom no specific cause for their abnormalities could be found. The group totaled 274 children (163 boys; 111 girls) whose ages ranged from 2 weeks to 17 years. Characteristics were IQ/DQ, 30 to 70 in the 115 for whom scores were available; 41% had seizures; 15% had sensorineural hearing loss; 54% showed gross motor delay or ataxia; and 27% had decreased muscle tone. One patient with a classical clinical picture of biotinidase deficiency was diagnosed during the study period and was not included in the study. None of the patients with nonclassic findings had a deficiency of biotinidase activity. Our results suggest that biotinidase deficiency does not account for a large proportion of children with unexplained neurologic abnormalities or developmental delay. This does not negate the importance of biotinidase testing in children with clinical patterns specifically suggestive of the deficiency.
患有不明原因发育迟缓或神经异常的儿童中生物素酶缺乏症的发生率高于一般人群，我们对一家大型门诊在四年期间接诊的儿童进行了研究，这些儿童有一项或多项上述神经异常，且其异常找不到特定原因。该组共有274名儿童（163名男孩；111名女孩），年龄从2周龄至17岁不等。其特征为：在有智商/发育商分数的115名儿童中，智商/发育商为30至70；41%的儿童有癫痫发作；15%的儿童有感音神经性听力损失；54%的儿童有大运动发育迟缓或共济失调；27%的儿童肌张力降低。在研究期间诊断出1例具有典型生物素酶缺乏临床症状的患者，该患者未纳入本研究。没有非典型表现的患者存在生物素酶活性缺乏。我们的结果表明，生物素酶缺乏症在患有不明原因神经异常或发育迟缓的儿童中并不占很大比例。但这并不否定对具有特别提示该缺乏症临床症状的儿童进行生物素酶检测的重要性。
