Pseudohypertriglyceridemia: A Novel Case with Important Clinical Implications
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....
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2020-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2020/4609317 |
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| _version_ | 1849398938218528768 |
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| author | Ankur Rughani Kenneth Blick Hui Pang Monica Marin Jonathan Meyer Jeanie B. Tryggestad |
| author_facet | Ankur Rughani Kenneth Blick Hui Pang Monica Marin Jonathan Meyer Jeanie B. Tryggestad |
| author_sort | Ankur Rughani |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-9ffd2e4c11f643d38a96022317f22e4b |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-9ffd2e4c11f643d38a96022317f22e4b2025-08-20T03:38:27ZengWileyCase Reports in Pediatrics2090-68032090-68112020-01-01202010.1155/2020/46093174609317Pseudohypertriglyceridemia: A Novel Case with Important Clinical ImplicationsAnkur Rughani0Kenneth Blick1Hui Pang2Monica Marin3Jonathan Meyer4Jeanie B. Tryggestad5Department of Pediatrics, Section of Diabetes and Endocrinology, University of Oklahoma Health Sciences Center, Oklahoma City, Okla, USADepartment of Pathology, University of Oklahoma Health Sciences Center, Oklahoma City, Okla, USADepartment of Pediatrics, Section of Genetics, University of Oklahoma Health Sciences Center, Oklahoma City, Okla, USADepartment of Pediatrics, Section of Diabetes and Endocrinology, University of Oklahoma Health Sciences Center, Oklahoma City, Okla, USADepartment of Pediatrics, Section of Diabetes and Endocrinology, University of Oklahoma Health Sciences Center, Oklahoma City, Okla, USADepartment of Pediatrics, Section of Diabetes and Endocrinology, University of Oklahoma Health Sciences Center, Oklahoma City, Okla, USAPseudohypertriglyceridemia 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.http://dx.doi.org/10.1155/2020/4609317 |
| spellingShingle | Ankur Rughani Kenneth Blick Hui Pang Monica Marin Jonathan Meyer Jeanie B. Tryggestad Pseudohypertriglyceridemia: A Novel Case with Important Clinical Implications Case Reports in Pediatrics |
| title | Pseudohypertriglyceridemia: A Novel Case with Important Clinical Implications |
| title_full | Pseudohypertriglyceridemia: A Novel Case with Important Clinical Implications |
| title_fullStr | Pseudohypertriglyceridemia: A Novel Case with Important Clinical Implications |
| title_full_unstemmed | Pseudohypertriglyceridemia: A Novel Case with Important Clinical Implications |
| title_short | Pseudohypertriglyceridemia: A Novel Case with Important Clinical Implications |
| title_sort | pseudohypertriglyceridemia a novel case with important clinical implications |
| url | http://dx.doi.org/10.1155/2020/4609317 |
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