Pseudohypertriglyceridemia: A Novel Case with Important Clinical Implications
Joint Authors
Tryggestad, Jeanie B.
Pang, Hui
Rughani, Ankur
Blick, Kenneth
Marin, Monica
Meyer, Jonathan
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-08-06
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Rughani, Ankur& Blick, Kenneth& Pang, Hui& Marin, Monica& Meyer, Jonathan& Tryggestad, Jeanie B.. 2020. Pseudohypertriglyceridemia: A Novel Case with Important Clinical Implications. Case Reports in Pediatrics،Vol. 2020, no. 2020, pp.1-4.
https://search.emarefa.net/detail/BIM-1150632
Modern Language Association (MLA)
Rughani, Ankur…[et al.]. Pseudohypertriglyceridemia: A Novel Case with Important Clinical Implications. Case Reports in Pediatrics No. 2020 (2020), pp.1-4.
https://search.emarefa.net/detail/BIM-1150632
American Medical Association (AMA)
Rughani, Ankur& Blick, Kenneth& Pang, Hui& Marin, Monica& Meyer, Jonathan& Tryggestad, Jeanie B.. Pseudohypertriglyceridemia: A Novel Case with Important Clinical Implications. Case Reports in Pediatrics. 2020. Vol. 2020, no. 2020, pp.1-4.
https://search.emarefa.net/detail/BIM-1150632
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1150632