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Article

Transient infantile hypertriglyceridaemia due to homozygous mutation in GPD1 presenting in childhood with hepatic adenoma.

BMJ case reports - 1 Apr 2022

Kumar Karunesh, Malhotra Smita, Sibal Anupam

Abstract excerpt

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....

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Identifiers

PMID: 35365473
DOI: 10.1136/bcr-2022-248801
PMCID: PMC8977762

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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