Key result
A novel missense mutation in the GK gene led to isolated glycerol kinase deficiency and pseudohypertriglyceridemia in a male infant of a mother with gestational diabetes.
Why the study?
Assays measuring triglycerides indirectly can be skewed by elevated glycerol in glycerol kinase deficiency, leading to pseudohypertriglyceridemia and potential diagnostic challenges.
Design
Case report and review
Authors
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Prompts consideration of GK deficiency in infant pseudohypertriglyceridemia; extends known mutations but remains hypothesis-generating.
Case Report (n=1)
Highlights the importance of recognizing pseudohypertriglyceridemia caused by glycerol kinase deficiency to avoid misdiagnosis of hypertriglyceridemia.
Rughani et al. (2020) conducted a case report in Pseudohypertriglyceridemia and isolated glycerol kinase deficiency (n=1). Novel missense mutation in the GK gene was evaluated. A novel missense mutation in the GK gene led to isolated glycerol kinase deficiency and pseudohypertriglyceridemia in a male infant of a mother with gestational diabetes.
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