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Article

A very rare cause of hypertrygliseridemia in infancy: a novel mutation in glycerol-3-phosphate dehydrogenase 1 (GPD1) gene.

Journal of pediatric endocrinology & metabolism : JPEM - 26 Jul 2023

Gunes Dilek, Kalaycik Sengul Ozlem, Senturk Leyli

Abstract excerpt

OBJECTIVES: Transient infantile hypertriglyceridemia (HTGTI) is caused by mutations in the glycerol-3-phosphate dehydrogenase 1 (GPD1) gene. HTGTI is characterized by hypertriglyceridemia, hepatomegaly, hepatic steatosis and fibrosis in infancy. Here, we reported first Turkish HTGTI patient with a novel mutation of GPD1, having hypertriglyceridemia, hepatomegaly, growth retardation and hepatic steatosis. He is...

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Identifiers

PMID: 37211761
DOI: 10.1515/jpem-2023-0053

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