Journal of Clinical Pediatrics ›› 2025, Vol. 43 ›› Issue (6): 458-463.doi: 10.12372/jcp.2025.24e0723
• Original Article • Previous Articles Next Articles
ZHANG Liming1, LIU Lei2, YANG Jianwei1, SUN Hongqi1, YANG Junmei1, CHEN Yongxing3()
Received:
2024-07-17
Accepted:
2024-10-23
Published:
2025-06-15
Online:
2025-06-01
CLC Number:
ZHANG Liming, LIU Lei, YANG Jianwei, SUN Hongqi, YANG Junmei, CHEN Yongxing. Clinical feature and genetic analysis of two children with isolation glycerol kinase deficiency[J].Journal of Clinical Pediatrics, 2025, 43(6): 458-463.
[1] |
Ribeiro AI, Pinto S, Ayres-Pereira I, et al. Deficiencia de glicerolcinasa: una causa metabolica de retraso global del desarrollo [Glycerol kinase deficiency: a metabolic cause of global developmental delay][J]. Rev Neurol, 2019, 68(4): 179-180.
pmid: 30741406 |
[2] |
Tao N, Liu X, Chen Y, et al. Delayed diagnosis of complex glycerol kinase defciency in a Chinese male infant: a case report[J]. BMC Pediatr, 2022, 22(1): 517.
doi: 10.1186/s12887-022-03568-9 pmid: 36050749 |
[3] |
Pizza A, Picillo E, Onore ME, et al. Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review literature[J]. Acta Myol, 2023, 42(1): 24-30.
doi: 10.36185/2532-1900-246 pmid: 37091526 |
[4] | Diana Montoya-Williams, Meredith Mowitz. Cholestasis and hepatic iron deposition in an infant with complex glycerol kinase deficiency[J]. Pediatrics, 2017, 140(1): e20161479. |
[5] |
Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants:a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology[J]. Genet Med, 2015, 17(5): 405-424.
doi: 10.1038/gim.2015.30 pmid: 25741868 |
[6] | Itziar LM, Rocio MG, Jacinto FP, et al. Glycerol kinase deficiency in adults: description of 4 novel cases, systematic review and development of a clinical diagnostic score[J]. Atherosclerosis, 2020, 315: 24-32. |
[7] | Filingeri D, Mackey S, Soller H, et al. A novel GK Ala469Val variant resulting in glycerol kinase deficiency with concurrent hepatoblastoma: A case report[J]. Mol Genet Metab Rep, 2024, 38: 101058. |
[8] | 李秀珍, 刘丽, 梅慧芬, 等. 儿童复合型甘油激酶缺乏症[J]. 中国当代儿科杂志, 2007, 9(5): 441-444. |
Li XZ, Liu L, Mei HF, et al. Complex glycerol kinase deficiency in children[J]. Zhongguo Dangdai Erke Zazhi, 2007, 9(5): 441-444. | |
[9] |
Heide S, Afenjar A, Edery P. 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 pmid: 25917374 |
[10] | 石淑娟, 乔凌燕, 李堂. 儿童单纯型甘油激酶缺乏症1例报告并文献复习[J]. 山东医药, 2021, 61(2): 59-62. |
Shi SJ, Qiao LY, Li T. Simple glycerol kinase deficiency in a child: a case report and literature review[J]. Shandong Yiyao, 2021, 61(2): 59-62. | |
[11] | Sjarif DR, Révész T, De Koning TJ, et al. Isolated glycerol kinase deficiency and Fanconi anemia[J]. Am J Med Genet, 2001, 99(2): 159-160. |
[12] |
Sjarif DR, Sinke RJ, Duran M, et al. Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency[J]. J Med Genet, 1998, 35(8): 650-656.
pmid: 9719371 |
[13] | Zhang YH, Huang BL, Jialal I, et al. Asymptomatic isolated human glycerol kinase deficiency associated with splice-site mutations and nonsense-mediated decay of mutant RNA[J]. Pediatr Res, 2006, 59(4 Pt 1): 590-592. |
[14] |
Hellerud C, Adamowicz M, Jurkiewicz D, et al. Clinical heterogeneity and molecular findings in five Polish patients with glycerol kinase deficiency: investigation of two splice site mutations with computerized splice junction analysis and Xp21 gene-specific mRNA analysis[J]. Mol Genet Metab, 2003, 79(3): 149-159.
pmid: 12855219 |
[15] |
Illsinger S, Marquardt I, Lücke T, et al. Two cases of isolated glycerol kinase deficiency with heterogeneous neurological symptoms[J]. Dev Med Child Neurol, 2007, 49(5): 396-397.
doi: 10.1111/j.1469-8749.2007.00396.x pmid: 17489818 |
[16] |
Sargent CA, Kidd A, Moore S, et al. Five cases of isolated glycerol kinase deficiency, including two families: failure to find genotype: phenotype correlation[J]. J Med Genet, 2000, 37(6): 434-441.
pmid: 10851254 |
[17] |
Hellerud C, Wramner N, Erikson A, et al. Glycerol kinase deficiency: follow-up during 20 years, genetics, biochemistry and prognosis[J]. Acta Paediatr, 2004, 93(7): 911-921.
pmid: 15303806 |
[18] | Hellerud C, Burlina A, Gabelli C, et al. Glycerol metabolism and the determination of triglycerides-clinical, biochemical and molecular findings in six subjects[J]. Clin Chem Lab Med, 2003, 41(1): 46-55. |
[19] |
Eriksson A, Lindstedt S, Ransnäs L, et al. Deficiency of glycerol kinase (EC 2.7.1.30)[J]. Clin Chem, 1983, 29(4): 718-722..
pmid: 6299616 |
[20] |
Sjarif DR, Dorland L, Sperl W, et al. Hyperketonaemia in glycerol kinase deficiency[J]. J Inherit Metab Dis, 2000, 23(7): 760-764.
pmid: 11117440 |
[21] | Blomquist HK, Dahl N, Gustafsson L, et al. Glycerol kinase deficiency in two brothers with and without clinical manifestations[J]. Case Reports Clin Genet, 1996, 50(5): 375-379. |
[22] | Ginns EI, Barranger JA, McClean SW, et al. A juvenile form of glycerol kinase deficiency with episodic vomiting, acidemia, and stupor[J]. J Pediatr, 1984, 104(5): 736-739. |
[23] |
Zhang YH, Hove JL Van, McCabe ER, et al. Gestational diabetes associated with a novel mutation (378-379insTT) in the glycerol kinase gene[J]. Mol Genet Metab Rep, 2015, 4: 42-45.
pmid: 26309814 |
[24] | Romero FF, Bermúdez de la Vega JA, Martin CG, et al. Hyperglycerolemia, a pseudo-hypertriglyceridemia: a case report[J]. An Pediatr (Barc), 2009, 71(1): 68-71. |
[25] | 曾兰兰, 李浩贤, 梅利斌, 等. 甘油激酶缺乏症基因突变分析[C]. 第十四次全国医学遗传学学术会议论文汇编, 2015年. |
Zeng LL, Li HX, Mei LB, et al. Mutation analysis of the glycerol kinase deficiency gene[C]. Proceedings of the 14th National Academic Conference on Medical Genetics, 2015. | |
[26] |
Lewis B, Harbord M, Keenan R, et al. Isolated glycerol kinase deficiency in a neonate[J]. J Child Neurol, 1994, 9(1): 70-73.
pmid: 7512107 |
[27] |
Zhang Y, Dipple KM, Vilain E, et al.AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency[J]. Hum Mutat, 2000, 15(4): 316-323.
doi: 10.1002/(SICI)1098-1004(200004)15:4<316::AID-HUMU3>3.0.CO;2-9 pmid: 10737976 |
[28] | Rughani A, Blick K, Pang H, et al. Pseudo-hypertriglyceridemia: a novel case with important clinical implications[J]. Case Rep Pediatr, 2020: 1-4. |
[29] | 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. |
Fan R, Zhang YN, Li XP, et al. Complex glycerol kinase deficiency: two cases report and literature review[J]. Lingchuang Erke Zazhi, 2018, 36(3): 197-201. | |
[30] | James MB, Thomas DD, Daniel MH, et al. Hypertriglyceridaemia unresponsive to multiple treatments[J]. BMJ Case Rep, 2015: bcr2015210788. |
[31] |
Fu XW, Williamson CP, Bosfield K. Pseudo-hypertriglyceridemia in a 2-year-old male with global developmental delay, myopathy and adrenal hypoplasia[J]. J Mass Spectrom Adv Clin Lab, 2024, 32: 47-49.
doi: 10.1016/j.jmsacl.2024.02.004 pmid: 38419979 |
[32] |
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.
pmid: 10736265 |
[33] |
Sjarif DR, Ploos van Amstel JK, Duran M, et al. Isolated and contiguous glycerol kinase gene disorders: a review[J]. J Inherit Metab Dis, 2000, 23(6): 529-547.
pmid: 11032329 |
[34] |
Dipple KM, Zhang YH, Huang BL, et al. Glycerol kinase deficiency: evidence for complexity in a single gene disorder[J]. Hum Genet, 2001, 109(1): 55-62.
pmid: 11479736 |
[1] | ZHANG Hongwen. Application and consideration of eculizumab in the treatment of childhood systemic lupus erythematosus [J]. Journal of Clinical Pediatrics, 2025, 43(6): 403-407. |
[2] | LI Qiuyu, LIU Fei, ZHAO Manli, GU Weizhong, FENG Chunyue, FU Haidong. Clinicopathological analysis of 3496 pediatric patients with renal disease: a single-center retrospective study [J]. Journal of Clinical Pediatrics, 2025, 43(6): 411-417. |
[3] | WANG Ruixue, WANG Runjie, LI Xiaolu, ZHANG Ting, XIAO Yongmei. Analysis of clinical characteristics, endoscopic and pathological manifestations of children with positive lactulose hydrogen-methane breath test [J]. Journal of Clinical Pediatrics, 2025, 43(6): 418-425. |
[4] | YUE Yang, ZHANG Zhihua, LI Mei, LIU Zhifeng, GUO Hongmei. Predictors of efficacy of infliximab induction therapy in children with Crohn's disease [J]. Journal of Clinical Pediatrics, 2025, 43(6): 426-431. |
[5] | XIE Lilin, XU Jinping, YAO Yonghua. Pediatric arterial ischemic stroke: a single-center retrospective study [J]. Journal of Clinical Pediatrics, 2025, 43(6): 432-437. |
[6] | DU Tingting, YAO Hui, CHEN Xiaohong, YANG Luhong, FENG Lifang, CHEN Xiaoqian, HU Man, LI Yakun. A study examining the association between hypopituitarism and metabolic-associated fatty liver disease following surgery for tumors in the sellar region among children [J]. Journal of Clinical Pediatrics, 2025, 43(6): 438-444. |
[7] | XU Shiyi, LIU Yi, YU Yongguo, GAN Jing, XIAO Bing, SUN Yu. Optimized high-throughput sequencing for diagnosing childhood-onset Huntington's disease and analysis of clinical features [J]. Journal of Clinical Pediatrics, 2025, 43(6): 445-451. |
[8] | WANG Xiao, LI Quanheng, ZHAO Zhai, ZHAO Pei, HAO Pengli, LIANG Xingsi, GENG Wenjin. Clinical analysis of eight cases with diquat poisoning in children and literature review [J]. Journal of Clinical Pediatrics, 2025, 43(6): 452-457. |
[9] | FU Mengzhen, SHI Kaili, GAO Chunlin, SHI Zhuo, ZHANG Pei, JIA Lili, MA Chenxi, LIU Jiuyu, XIA Zhengkun. Eculizumab treatment for thrombotic thrombocytopenic purpura associated with systemic lupus erythematosus in children: a case report [J]. Journal of Clinical Pediatrics, 2025, 43(6): 464-469. |
[10] | MA Yuzhi, YAO Zhirong, ZHANG Jia. Clinical and genetic analysis of atypical erythrokeratodermia variabilis: a case report [J]. Journal of Clinical Pediatrics, 2025, 43(6): 470-474. |
[11] | ZHANG Yixin, HONG Siqi. Pharmacologic and upcoming treatment of pediatric narcolepsy [J]. Journal of Clinical Pediatrics, 2025, 43(6): 475-482. |
[12] | ZHOU Fan, WANG Jiandong, SU Yu, WEI Yongwei, WANG Huaili. Clinical features comparison of hypertensive encephalopathy in children with different etiologies: a single-center 12-year retrospective analysis [J]. Journal of Clinical Pediatrics, 2025, 43(5): 323-328. |
[13] | ZHOU Zibei, ZHOU Wei, ZHANG Juan, LI Zailing. Clinical analysis of eight cases of food-dependent exercise-induced anaphylaxis in children [J]. Journal of Clinical Pediatrics, 2025, 43(5): 334-339. |
[14] | CAI Meihong, XU Leiming, QU Chunying, LI Zhenghong, SHEN Feng, LI Mingming, ZHANG Yi. Application and effect evaluation of single balloon enteroscopy in long-term follow-up of patients with Peutz-Jeghers syndrome [J]. Journal of Clinical Pediatrics, 2025, 43(5): 340-344. |
[15] | SUN Yunteng, WU Wenyong, CHEN Hong, CAI Binbin, SU Yiqun, CHEN Ruimin. A case of retinitis pigmentosa with or without skeletal abnormality syndrome caused by CWC27 gene variation and literature review [J]. Journal of Clinical Pediatrics, 2025, 43(5): 350-355. |
Viewed | ||||||||||||||||||||||||||||||||||||||||||||||||||
Full text 140
|
|
|||||||||||||||||||||||||||||||||||||||||||||||||
Abstract 86
|
|
|||||||||||||||||||||||||||||||||||||||||||||||||
Cited |
|
|||||||||||||||||||||||||||||||||||||||||||||||||
Shared | ||||||||||||||||||||||||||||||||||||||||||||||||||
|