1例生物素酶缺乏症患儿的临床分析

目的 探讨生物素酶缺乏症患儿的临床特征、诊断与治疗的方法 .方法 运用血串联质谱、尿有机酸分析、医学外显子高通量测序等检查技术,对1例因"间断抽搐1月余,咳嗽20余天,反应差3天"于2019年5月入住空军军医大学第一附属医院的小婴儿进行筛查和诊断,分析其临床表现、实验室检查结果 及诊疗情况.结果 血串联质谱分析示:3-...

Clinical analysis of a case of biotinase deficiency in infant

Objective To expliore clinical features,diagnosis and treatment of biotinidase deficiency in infant.Methods A two months and twenty-one days old male infant admitted to our department because of intermittent frequent convulsion for one month,cough for 20 days and poor response for 3 days in May,2019.The patient was diagnosed as biotinidase deficiency by blood tandem mass spectrometry,urinary organic acid analysis and exome sequencing,and his clinical data including manifestations,laboratory results and diagnosis and treatment were analyzed.Results Blood tandem mass spectrometry demonstrated that serum levels of C5-OH and C3 of the infant elevated.Urine organic acid analysis showed that the levels of lactic acid,2-hydroxy-butyric acid,3-hydroxy propionic acid,pyruvic acid,3-hydroxy-butyric acid,2-hydroxy isovaleric acid,3-hydroxy isovaleric acid,3-methylcrotonyl glycine and methyl citric acid in urine of the infant increased,which suggested possibility of deficiencies in many kinds of hydroxylase.Exome sequencing revealed that there were two gene mutations at c.868 G>A and c.3844 delGCGGCTGinsTCC in the exon regions of biotinidase(BTD)gene.These compound heterozygous mutations were found from his father and mother respectively through family verification.The infant died prior to diagnosis and had not received biotin supplementation therapy.Conclusions Biotinase deficiency often cause severe nervous system damage,so for those infants who present with intractable epilepsy and developmental delay in early infancy,the diagnosis of biotinase deficiency should be considered.Biotin administration can greatly improve the clinical symptoms of the infant.Therefore,early screening,diagnosis and adequate treatment are key points to save the life of the infant.