Kiykim Ertugrul, Kiykim Ayca, Cansever Mehmet Serif, Zeybek Cigdem Ayse Aktuglu
Division of Nutrition and Metabolism, Department of Pediatrics, Cerrahpasa Medical Faculty, Istanbul, Turkey.
Division of Allergy and Immunology, Department of Pediatrics, Marmara University, Istanbul, Turkey.
BMJ Case Rep. 2015 May 8;2015:bcr2014209275. doi: 10.1136/bcr-2014-209275.
Biotinidase deficiency (BD) is an inborn metabolic disorder inherited in an autosomal recessive manner. Partially due to high consanguinity rates in Turkey, BD incidence is high in Turkey. If left untreated, neurological abnormalities including seizures, hypotonia, sensorineural deafness, alopecia, egzamatous skin rash and candidiasis may occur. Three-years-old girl was admitted to hospital with recurrent infections, candidiasis and egzamatous skin rash. Immunological evaluation was normal. Associated deafness and consanguinity of the parents suggested BD which has been proven by enzyme activity measurement. With this report, we want to emphasise that BD can be the underlying cause of recurrent infections and candidiasis.
生物素酶缺乏症（BD）是一种以常染色体隐性方式遗传的先天性代谢紊乱疾病。部分由于土耳其近亲结婚率高，该国BD的发病率较高。如果不进行治疗，可能会出现包括癫痫发作、肌张力减退、感音神经性耳聋、脱发、湿疹样皮疹和念珠菌病在内的神经异常症状。一名三岁女童因反复感染、念珠菌病和湿疹样皮疹入院。免疫评估正常。父母的相关耳聋和近亲结婚情况提示可能患有BD，酶活性测量已证实了这一点。通过本报告，我们想强调BD可能是反复感染和念珠菌病的潜在病因。
