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Transient infantile hypertriglyceridaemia due to homozygous mutation in GPD1 presenting in childhood with hepatic adenoma
  1. Karunesh Kumar1,
  2. Smita Malhotra2 and
  3. Anupam Sibal2
  1. 1Pediatric Gastroenterology and Hepatology, Indraprastha Apollo Hospital, New Delhi, India
  2. 2Pediatric Gastroenterology and Hepatology, Indraprastha Apollo Hospital, New Delhi, Delhi, India
  1. Correspondence to Dr Karunesh Kumar; karuneshgastro{at}gmail.com

Abstract

Hypertriglyceridaemia in infancy is usually secondary to underlying metabolic disorder which usually has a genetic basis unlike the adult population. One such recently described entity is transient infantile hypertriglyceridaemia (HTGTI). In this disorder, mutation in glycerol-3-phosphate (G3P) dehydrogenase gene leads to deficiency of G3P dehydrogenase resulting in hypertriglyceridaemia and hepatomegaly. Clinical features tend to improve with age but may develop fibrosis. Our patient presented in infancy with hypoglycaemia, hepatomegaly, high transaminases and hypertriglyceridaemia. Limited genetic test for glycogen storage disorder was negative and was kept under follow-up. On follow-up, he developed hepatic lesion and his hepatomegaly with hypertriglyceridaemia persisted. There are only a few cases reported worldwide and none has reported development of adenoma so far. This could be the first report of development of adenoma in transient HTGTI.

  • Congenital disorders
  • Genetic screening / counselling

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Footnotes

  • Contributors KK conceptualised and drafted the manuscript. SM reviewed the manuscript. AS reviewed and approved the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.