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Case Reports: Rare disease
Case of GPD1 deficiency causing hypertriglyceridaemia and non-alcoholic steatohepatitis
  1. Leo Polchar1 and
  2. Pramodh Vallabhaneni2
  1. 1Swansea University College of Medicine, Swansea, Swansea, UK
  2. 2Child Health, Swansea Bay University Health Board, Port Talbot, UK
  1. Correspondence to Dr Pramodh Vallabhaneni; Pramodh.vallabhaneni{at}wales.nhs.uk

Abstract

We report a case of a young girl of South Asian descent presented with faltering growth, hepatomegaly, hypertriglyceridaemia and raised transaminases. Subsequent ultrasound scans identified fatty infiltration in her liver, and a liver biopsy showed fibrosis and steatosis. The patient’s serum triglycerides normalised without intervention by the age of 28 months. At age 6, whole-exome sequencing of the patient’s genome identified novel homozygous variants in the glycerol-3-phosphate dehydrogenase 1 (GPD1) gene, GPD1 c.500G>A (p.Gly167Asp), leading to a diagnosis of GPD1 deficiency.

  • Gastrointestinal system
  • Nutrition
  • Liver disease
  • Nonalcoholic steatosis

https://doi.org/10.1136/bcr-2021-246369

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    Footnotes

    • Twitter @drPramV

    • Contributors LP wrote the first draft and jointly wrote the revised manuscript with PV. PV conceived the idea, edited the first draft and jointly wrote the revised manuscript with LP. Both authors are joint first-authors.

    • 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.