复合型甘油激酶缺乏症一例临床资料及基因变异分析

复合型甘油激酶缺乏症是一种由Xp21染色体部分缺失引起的相邻基因综合征，主要表现为甘油激酶缺乏、肾上腺皮质功能低下、杜氏肌营养不良和智力发育落后，及时行基因检测可早期诊断。本文报告了1例复合型甘油激酶缺乏症新生儿患儿，其主要表现为肾上腺皮质功能减退（低钠血症和高钾血症）、高肌酸激酶血症和高甘油尿症，经家系全外显子及CNV Seq检测最终确诊。

Clinical and Gene Variation Analyses of a Case of Complex Glycerol Kinase Deficiency

Complex glycerol kinase deficiency is a kind of contiguous gene syndrome caused by partial deletion of Xp21 chromosome，which is mainly manifested as glycerol kinase deficiency，adrenal cortical dysfunction，Duchenne muscular dystrophy and mental retardation.Timely gene detection is helpful for early diagnosis.This paper reported a neonatal case of complex glycerol kinase deficiency with manifestations mainly consist of adrenocortical hypofunction （hyponatremia and hyperkalemia），elevated creatine kinase and urine glycerol levels.Whole exome sequencing and CNV Seq tests were performed to confirm the diagnosis.