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Glycerol kinase deficiency in adults: Description of 4 novel cases, systematic review and development of a clinical diagnostic score.

Atherosclerosis - 1 Dec 2020

Lamiquiz-Moneo Itziar, Mateo-Gallego Rocio, Fernández-Pardo Jacinto, López-Ariño Chuan, Marco-Benedí Victoria, Bea Ana M, Ferraro Lia, Jarauta Estibaliz, Cenarro Ana, Civeira Fernando

Abstract excerpt

BACKGROUND AND AIMS: Glycerol kinase deficiency (GKD) is a rare genetic disorder characterized by hyperglycerolemia and glyceroluria, which could be misdiagnosed as a moderate to severe hypertriglyceridemia (HTG). We aimed to describe four novel cases of GKD, to complete a systematic review of all cases of isolated GKD published so far, and to develop a suspicion clinical diagnostic score for GKD. METHODS: We...

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PMID: 33212314
DOI: 10.1016/j.atherosclerosis.2020.10.897

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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