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PMID: 6288290 Published · ppublish English Case Reports Journal Article

'Pseudohypertriglyceridemia' caused by hyperglycerolemia due to congenital enzyme deficiency.

Clinica chimica acta; international journal of clinical chemistry ·Vol. 123 ·No. 3 ·1982-08-18 ·Pages 269-74

Goussault Y, Turpin E, Neel D, Dreux C, Chanu B, Bakir R, Rouffy J

Abstract

A 76-year-old man was found to have a false hypertriglyceridemia due to a 40-fold increased glycerolemia. This metabolic change was due to a deficiency in glycerol kinase (ATP:glycerol phosphotransferase, EC 2.7.1.30) activity in the cells of this patient as shown by incubation of his white blood cells with [14 C]glycerol. Several chromatographic analyses and quantitative assays were performed on plasma and urine of this patient and of his relatives. The small number of this family's members did not allow to specify the mode of transmission of this genetic trait.

MeSH Terms
Aged Carbohydrate Metabolism, Inborn Errors/genetics,metabolism Diagnostic Errors Glycerol/blood,urine Glycerol Kinase/deficiency Humans Leukocytes/enzymology Male Phosphotransferases/deficiency Triglycerides/blood
Chemicals
Triglycerides Phosphotransferases Glycerol Kinase Glycerol
Authors & Affiliations
7 authors, click to expand affiliations / ORCID
Goussault Y
Turpin E
Neel D
Dreux C
Chanu B
Bakir R
Rouffy J
Article Info
Journal
Clinica chimica acta; international journal of clinical chemistry
Abbr.
Clin Chim Acta
ISSN
0009-8981
Published
1982-08-18
Pages
269-74
Language
English
Region
Netherlands
NLM ID
1302422
Subset
IM
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