报道1例生物素酶缺乏症病例,探讨因生物素酶缺乏症所致的临床特征和诊治方法。3岁男童,因脱发、皮疹6月,进行性肢体无力3个月就诊。运用尿气相色谱质谱联用及干燥血液生物素酶活性测定进行筛查,诊断符合生物素酶缺乏症。经生物素补充治疗,患儿3d后全身情况逐渐好转,1个月后基本恢复正常。生物素酶缺乏症常导致严重皮肤与神经系统损害,早期诊断与治疗是挽救患儿生命的关键。

OBJECTIVE: This study reported the case of a 3-year-old boy with biotinidase deficiency. The child was admitted with a 6 month history of alopecia and tetter and progressive lower limbs flaccidity for 3 months. Urinary organic acid analysis with gas chromatograph/mass spectrometry and biotinidase activity assay of blood confirmed the diagnosis of biotinidase deficiency. He presented with neurological abnormalities and dermatological lesions. Biotin supplementation (20 mg/d) led to a dramatic improvement of the symptoms. It was concluded that early diagnosis and biotin supplementation can greatly improve the outcome of patients.