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目的 探讨生物素酶缺乏症的临床特征、诊断与治疗方法。方法 运用尿有机酸分析(气相色谱 质谱联用 )及干燥滤纸血片生物素酶测定进行筛查与诊断 ,对 6例生物素酶缺乏症患儿的临床经过进行分析。结果 (1 ) 6例干燥滤纸血片生物素酶活性均小于 0 .1pmol/ (min·3mm)。尿有机酸分析显示例 1、2、3、5乳酸、3 羟基丙酸、丙酮酸、丙酰甘氨酸、甲基巴豆酰甘氨酸、β 羟基异戊酸浓度明显增高 ,例 4、6仅显示乳酸、丙酮酸、甲基巴豆酰甘氨酸增高。 (2 ) 6例各有不同程度的神经系统损害和皮肤粘膜异常。例 1～ 3为婴儿期起病 ,因惊厥、智力运动倒退、呕吐、意识障碍来院 ,合并贫血、酮症酸中毒、低血糖。例 2于 7个月起出现顽固性湿疹 ,口角、肛门周围糜烂。例 4以扭转痉挛及全身性脓疱型牛皮癣为主。例 5、6分别于 7岁、5岁起病 ,进行性肢体运动障碍 ,MRI显示颈髓炎性脱髓鞘病变。例 6伴视神经萎缩、脱发。除例 3未接受治疗外 ,5例经生物素补充治疗后疗效显著 ,皮肤损害均已控制 ,神经系统情况逐渐好转。例 4、6仍存在明显的下肢运动障碍。结论 生物素酶缺乏症患儿临床表现复杂 ,生物素补充治疗疗效显著 ,早期发现、合理治疗可有效地改善预后。对可疑患者应及早进行尿有机酸分析和血清生物素酶测定等有关?
Objective To investigate the clinical features, diagnosis and treatment of biotinase deficiency. Methods The urinary organic acid analysis (GC-MS) and dry filter paper biotin enzyme assay were used for screening and diagnosis. The clinical data of 6 patients with biotinase deficiency were analyzed. Results (1) 6 cases of dry filter paper biotin activity were less than 0.01 pmol / (min · 3mm). Urinary organic acid analysis showed that the concentrations of lactic acid, 3-hydroxypropionic acid, pyruvic acid, propionylglycine, methylcalatonylglycine and β-hydroxyisovaleric acid were significantly increased in Examples 1, 2, 3 and 5, Pyruvate, methyl crotonyl glycine increased. (2) There were 6 cases of different degrees of nervous system damage and mucocutaneous abnormalities. Cases 1 to 3 for the infancy onset, due to convulsions, mental retardation, vomiting, disturbance of consciousness hospital, combined anemia, ketoacidosis, hypoglycemia. Case 2 stubborn eczema in 7 months, mouth, anus around the erosion. Example 4 to reverse spasms and systemic pustular psoriasis dominated. Example 5 and 6, respectively, at the age of 7, 5 years old onset, progressive limb movement disorders, MRI showed cervical myelinated demyelinating lesions. Example 6 with optic nerve atrophy, hair loss. In addition to the case 3 did not receive treatment, 5 patients after treatment with biotin significant effect, skin lesions have been controlled, the nervous system gradually improved. Cases 4,6 there are still significant lower extremity dyskinesia. Conclusion The clinical manifestations of children with biotinase deficiency complex, significant effect of biotin supplementation therapy, early detection and reasonable treatment can effectively improve the prognosis. Suspected patients should be as early as possible urine organic acid analysis and serum bio-enzyme determination?