A very rare cause of hypertrygliseridemia in infancy: a novel mutation in glycerol-3-phosphate dehydrogenase 1 (GPD1) gene
Author:
Gunes Dilek1ORCID, Kalaycik Sengul Ozlem2, Senturk Leyli3
Affiliation:
1. Division of Inborn Metabolic Disease, Department of Pediatrics , Bezmialem Vakif University Hospital , Fatih/İstanbul , Türkiye 2. Division of Pediatric Gastroenterology, Hepatology and Nutrition, Department of Pediatrics , Istanbul Kanuni Sultan Suleyman Training and Research Hospital , Küçükçekmece/İstanbul , Türkiye 3. Department of Clinical Genetics , Istanbul Bagcilar Training and Research Hospital , Bağcılar/İstanbul , Türkiye
Abstract
Abstract
Objectives
Transient infantile hypertriglyceridemia (HTGTI) is caused by mutations in the glycerol-3-phosphate dehydrogenase 1 (GPD1) gene. HTGTI is characterized by hypertriglyceridemia, hepatomegaly, hepatic steatosis and fibrosis in infancy. Here, we reported first Turkish HTGTI patient with a novel mutation of GPD1, having hypertriglyceridemia, hepatomegaly, growth retardation and hepatic steatosis. He is the first case who needs transfusion until 6th month in GPD1.
Case presentation
A 2-month-27-day-old boy, who had growth retardation, hepatomegaly and anemia suffered to our hospital with vomiting. Triglyceride level was 1603 mg/dL (n<150). Liver transaminases were elevated and hepatic steatosis was developed. He needed transfusion with erythrocyte suspension until 6th month. Etiology could not be elucidated by clinical and biochemical parameters. A novel homozygous c.936_940del (p.His312GlnfsTer24) variant was detected in the GPD1 gene by Clinical Exome Analysis.
Conclusions
GPD1 deficiency should be investigated in the presence of unexplained hypertriglyceridemia and hepatic steatosis in children especially in infants.
Publisher
Walter de Gruyter GmbH
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health
Reference8 articles.
1. Ou, X, Ji, C, Han, X, Zhao, X, Li, X, Mao, Y, et al.. Crystal structures of human glycerol 3-phosphate dehydrogenase 1 (GPD1). J Mol Biol 2006;357:858–69. https://doi.org/10.1016/j.jmb.2005.12.074. 2. Basel-Vanagaite, L, Zevit, N, Har Zahav, A, Guo, L, Parathath, S, Pasmanik-Chor, M, et al.. Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1. Am J Hum Genet 2012;90:49–60. https://doi.org/10.1016/j.ajhg.2011.11.028. 3. Joshi, M, Eagan, J, Desai, NK, Newton, SA, Towne, MC, Marinakis, NS, et al.. A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia. Eur J Hum Genet 2014;22:1229–32. https://doi.org/10.1038/ejhg.2014.8. 4. Dionisi-Vici, C, Shteyer, E, Niceta, M, Rizzo, C, Pode-Shakked, B, Chillemi, G, et al.. Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency. J Inherit Metab Dis 2016;39:689–95. https://doi.org/10.1007/s10545-016-9956-7. 5. Wang, J, Sun, X, Jiao, L, Xiao, Z, Riaz, F, Zhang, Y, et al.. Clinical characteristics and variant analyses of transient infantile hypertriglyceridemia related to GPD1 gene. Front Genet 2022;13:916672. https://doi.org/10.3389/fgene.2022.916672.
|
|