Literature DB >> 6288290

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

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

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.

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Year:  1982        PMID： 6288290     DOI： 10.1016/0009-8981(82)90171-1

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


  10 in total

1.  Infantile glycerol kinase deficiency--a condition requiring prompt identification. Clinical, biochemical, and morphological findings in two cases.

Authors:  A Kohlschütter; H P Willig; D Schlamp; K Kruse; E R McCabe; H J Schäfer; G Beckenkamp; R Rohkamm
Journal:  Eur J Pediatr       Date:  1987-11       Impact factor: 3.183

2.  Mutations and phenotype in isolated glycerol kinase deficiency.

Authors:  A P Walker; F Muscatelli; A N Stafford; J Chelly; N Dahl; H K Blomquist; J Delanghe; P J Willems; B Steinmann; A P Monaco
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

3.  Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency.

Authors:  Bushra Afroze; Zabedah Yunus; Beat Steinmann; René Santer
Journal:  Eur J Pediatr       Date:  2013-07-24       Impact factor: 3.183

Review 4.  Isolated and contiguous glycerol kinase gene disorders: a review.

Authors:  D R Sjarif; J K Ploos van Amstel; M Duran; F A Beemer; B T Poll-The
Journal:  J Inherit Metab Dis       Date:  2000-09       Impact factor: 4.982

5.  DNA studies in a family with Duchenne muscular dystrophy and a deletion at Xp21.

Authors:  C R Greenberg; J L Hamerton; M Nigli; K Wrogemann
Journal:  Am J Hum Genet       Date:  1987-08       Impact factor: 11.025

6.  Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.

Authors:  U Francke; J F Harper; B T Darras; J M Cowan; E R McCabe; A Kohlschütter; W K Seltzer; F Saito; J Goto; J P Harpey
Journal:  Am J Hum Genet       Date:  1987-03       Impact factor: 11.025

7.  Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia.

Authors:  J Chelly; F Marlhens; B Dutrillaux; G J Van Ommen; M Lambert; B Haioun; G Boissinot; M Fardeau; J C Kaplan
Journal:  Hum Genet       Date:  1988-03       Impact factor: 4.132

8.  Complex Glycerol Kinase Deficiency and Adrenocortical Insufficiency in Two Neonates.

Authors:  Sabriye Korkut; Osman Baştuğ; Margarita Raygada; Nihal Hatipoğlu; Selim Kurtoğlu; Mustafa Kendirci; Charalampos Lyssikatos; Constantine A Stratakis
Journal:  J Clin Res Pediatr Endocrinol       Date:  2016-04-18

9.  Delayed diagnosis of complex glycerol kinase deficiency in a Chinese male infant: a case report.

Authors:  Na Tao; Xiaomei Liu; Yueqi Chen; Meiyuan Sun; Fang Xu; Yanfang Su
Journal:  BMC Pediatr       Date:  2022-09-01       Impact factor: 2.567

Review 10.  The polygenic nature of hypertriglyceridaemia: implications for definition, diagnosis, and management.

Authors:  Robert A Hegele; Henry N Ginsberg; M John Chapman; Børge G Nordestgaard; Jan Albert Kuivenhoven; Maurizio Averna; Jan Borén; Eric Bruckert; Alberico L Catapano; Olivier S Descamps; G Kees Hovingh; Steve E Humphries; Petri T Kovanen; Luis Masana; Päivi Pajukanta; Klaus G Parhofer; Frederick J Raal; Kausik K Ray; Raul D Santos; Anton F H Stalenhoef; Erik Stroes; Marja-Riitta Taskinen; Anne Tybjærg-Hansen; Gerald F Watts; Olov Wiklund
Journal:  Lancet Diabetes Endocrinol       Date:  2013-12-23       Impact factor: 32.069
  10 in total

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