Pseudohypertriglyceridemia as a clue: clinical and genetic spectrum of glycerol kinase deficiency in three pediatric cases.

Abstract excerpt

OBJECTIVES: Glycerol kinase deficiency (GKD) is a rare X-linked metabolic disorder caused by pathogenic variants in the GK gene. It can be present in either isolated or complex forms and often mimics primary hyperlipidemia, leading to diagnostic challenges and unnecessary treatment. This study aims to highlight the phenotypic variability and diagnostic features of GKD through a case series. CASE PRESENTATION: We...

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