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Article

Founder Effect of the c.500G>A Variant in South Asian Patients With Inherited GPD1 Deficiency: Report on 16 Patients and Variant Review.

American journal of medical genetics. Part A - 1 Aug 2026

Malik Ishaq, Banday Aaqib Zaffar, Bhat Abdus Sami, Jan Usman Muzafar, Reshie Aisha Ashiq, Fayaz Falah, Basharat Sahel, Wani Nisar Ahmad

Abstract excerpt

Only a few studies describe five (or more) patients with inherited glycerol-3-phosphate dehydrogenase 1 (GPD1) deficiency, often termed transient infantile hypertriglyceridemia (HTGTI). We report 18 additional patients with HTGTI (confirmed molecular diagnosis in 16, a variant of uncertain significance in two), most of whom presented in infancy with hepatomegaly. A significant negative correlation was noted...

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Identifiers

PMID: 41839820
DOI: 10.1002/ajmg.a.70129

Genes

GPD1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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