A very rare cause of hypertrygliseridemia in infancy: A novel mutation in glycerol-3-phosphate dehydrogenase 1 (GPD1) gene

Gunes D., Kalaycik Sengul O., Senturk L.

Journal of Pediatric Endocrinology and Metabolism, vol.36, no.7, pp.704-707, 2023 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 36 Issue: 7
  • Publication Date: 2023
  • Doi Number: 10.1515/jpem-2023-0053
  • Journal Name: Journal of Pediatric Endocrinology and Metabolism
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Page Numbers: pp.704-707
  • Keywords: GPD1, hepatic steatosis, transient infantile hypertriglyceridemia
  • Bezmialem Vakıf University Affiliated: Yes


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.