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

doi:10.12114/j.issn.1007-9572.2020.00.640

Abstract

Abstract: 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.

Key words: Complex glycerol kinase deficiency, HyperCKemias, Hyperglycyluria, Xp21

摘要： 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。

关键词: 复合型甘油激酶缺乏症, 高肌酸激酶血症, 高甘油尿症, Xp21

CUI Qingyang,SANG Guimei,CAO Yinli, et al. Clinical and Gene Variation Analyses of a Case of Complex Glycerol Kinase Deficiency　[J]. Chinese General Practice, 2021, 24(9): 1144-1147. DOI: 10.12114/j.issn.1007-9572.2020.00.640.
崔清洋,桑桂梅,曹银利等. 复合型甘油激酶缺乏症一例临床资料及基因变异分析[J]. 中国全科医学, 2021, 24(9): 1144-1147. DOI: 10.12114/j.issn.1007-9572.2020.00.640.

References

［1］SJARIF D R，PLOOS VAN AMSTEL J K，DURAN M，et al．
Isolated and contiguous glycerol kinase gene disorders：a review［J］．J Inherit Metab Dis，2000，23（6）：529-547．DOI：10.1023/a:1005660826652.
［2］KLEIN R D，THORLAND E C，GONZALES P R，et al．A multiplex assay for the detection and mapping of complex glycerol kinase deficiency［J］．Clin Chem，2006，52（10）：1864-1870．DOI：10.1373/clinchem.2006.072397.
［3］SJARIF D R，HELLERUD C，VAN AMSTEL J K，et al．Glycerol kinase deficiency：residual activity explained by reduced transcription and enzyme conformation［J］．Eur J Hum Genet，2004，12（6）：424-432．DOI：10.1038/sj.ejhg.5201172.
［4］范瑞，张一宁，李小平，等．复合型甘油激酶缺乏症2例报告并文献复习［J］．临床儿科杂志，2018，36（3）：197-201．DOI：10.3969/j.issn.1000-3606.2018.03.009.
［5］HEIDE S，AFENJAR A，EDERY P，et al．Xp21 deletion in female patients with intellectual disability：Two new cases and a review of the literature［J］．Eur J Med Genet，2015，58（6/7）：341-345．DOI：10.1016/j.ejmg.2015.04.003.
［6］GUO W，BURRIS T P，MCCABE E R.Expression of DAX-1，the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism，in the hypothalamic-pituitary-adrenal/gonadal axis［J］．Biochem Mol Med，1995，56（1）：8-13．DOI：10.1006/bmme.1995.1049.
［7］PRIOR T W，BRIDGEMAN S J.Experience and strategy for the molecular testing of Duchenne muscular dystrophy［J］．J Mol Diagn，2005，7（3）：317-326．DOI：10.1016/s1525-1578（10）60560-0.
［8］BEHNECKE A，HINDERHOFER K，BARTSCH O，et al．Intragenic deletions of IL1RAPL1：report of two cases and review of the literature［J］．Am J Med Genet A，2011，155A（2）：372-379．DOI：10.1002/ajmg.a.33656.
［9］PETER M，VIEMANN M，PARTSCH C J，et al．Congenital adrenal hypoplasia：clinical spectrum，experience with hormonal diagnosis，and report on new point mutations of the DAX-1 gene［J］．J Clin Endocrinol Metab，1998，83（8）：2666-2674．DOI：10.1210/jcem.83.8.5027.
［10］MANTOVANI G，OZISIK G，ACHERMANN J C，et al．Hypogonadotropic hypogonadism as a presenting feature of late-onset X-linked adrenal hypoplasia congenita［J］．J Clin Endocrinol Metab，2002，87（1）：44-48．DOI：10.1210/jcem.87.1.8163.
［11］GAUDET D，ARSENAULT S，PéRUSSE L，et al．Glycerol as a correlate of impaired glucose tolerance：dissection of a complex system by use of a simple genetic trait［J］．Am J Hum Genet，2000，66（5）：1558-1568．DOI：10.1086/302903.
［12］SJARIF D R，HELLERUD C，VAN AMSTEL J K，et al．Glycerol kinase deficiency：residual activity explained by reduced transcription and enzyme conformation［J］．Eur J Hum Genet，2004，12（6）：424-432．DOI：10.1038/sj.ejhg.5201172.
［13］PARKER A E，ROBB S A，CHAMBERS J，et al．Analysis of an adult Duchenne muscular dystrophy population［J］．QJM，2005，98（10）：729-736．DOI：10.1093/qjmed/hci113.
［14］Section on Cardiology and Cardiac Surgery.Cardiovascular health supervision for individuals affected by Duchenne or Becker muscular dystrophy［J］．Pediatrics，2005，116（6）：1569-1573．DOI：10.1542/peds.2005-2448.
［15］WIKIERA B，JAKUBIAK A，ZIMOWSKI J，et al．Complex glycerol kinase deficiency-X-linked contiguous gene syndrome involving congenital adrenal hypoplasia，glycerol kinase deficiency，muscular Duchenne dystrophy and intellectual disability （IL1RAPL gene deletion）［J］．Pediatr Endocrinol Diabetes Metab，2012，18（4）：153-157.
［16］李媛媛，刘卓，欧阳胜荣，等．以转氨酶升高为首发表现的假肥大型肌营养不良临床分析［J］．中华实用儿科临床杂志，2017，32（24）：1877-1881．DOI：10.3760/cma.j.issn.2095-428X.2017.24.009.