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- Title
Pseudohypertriglyceridemia: A Novel Case with Important Clinical Implications.
- Authors
Rughani, Ankur; Blick, Kenneth; Pang, Hui; Marin, Monica; Meyer, Jonathan; Tryggestad, Jeanie B.
- Abstract
Pseudohypertriglyceridemia is an overestimation of serum triglyceride levels that may incorrectly lead to a diagnosis of hypertriglyceridemia. Glycerol kinase deficiency is a condition in which glycerol cannot be phosphorylated to glycerol-3-phosphate, resulting in elevated levels of serum glycerol. Laboratory assays that measure triglycerides indirectly may be affected by elevated glyerol levels and incorrectly report serum tryglyceride levels. We present a case of a novel missense mutation in the GK gene leading to isolated glycerol kinase deficiency and pseudohypertriglyceridemia in a male infant of a mother with gestational diabetes. This paper reviews glycerol kinase deficiency, describes the challenges in diagnosing pseudohypertriglyceridemia, and provides suggestions on improving diagnostic accuracy. Additionally, a potential maternal-fetal interaction between gestational diabetes and glycerol kinase deficiency is discussed.
- Subjects
MOTHER-infant relationship; GESTATIONAL diabetes; SURROGATE mothers; MISSENSE mutation; GENETIC mutation
- Publication
Case Reports in Pediatrics, 2020, p1
- ISSN
2090-6803
- Publication type
Article
- DOI
10.1155/2020/4609317