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

Dilek Gunes; Ozlem Kalaycik Sengul; Leyli Senturk

doi:10.1515/jpem-2023-0053

Article

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

Dilek Gunes , Ozlem Kalaycik Sengul and Leyli Senturk

Published/Copyright: May 23, 2023

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From the journal Journal of Pediatric Endocrinology and Metabolism Volume 36 Issue 7

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.

Keywords: GPD1; hepatic steatosis; transient infantile hypertriglyceridemia

Corresponding author: Dilek Gunes, MD, Division of Inborn Metabolic Disease, Department of Pediatrics, Bezmialem Vakif University Hospital, Adnan Menderes Boulevard (Vatan Street) 34093, Fatih/İstanbul, Türkiye, E-mail: drdilekgunes@gmail.com

Research funding: None declared.
Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Competing interests: Authors state no conflict of interest.
Informed consent: Informed consent was obtained from all individuals included in this study.
Ethical approval: Not applicable.

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Received: 2023-02-04

Accepted: 2023-05-03

Published Online: 2023-05-23

Published in Print: 2023-07-26

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Articles in the same Issue

https://doi.org/10.1515/jpem-2023-0053

Keywords for this article

GPD1; hepatic steatosis; transient infantile hypertriglyceridemia