Literature DB >> 2986935

[Pseudohypertriglyceridemia in glycerokinase deficiency].

A Wirth, C C Heuck, W Bieger, G Schlierf.   

Abstract

Falsely high serum triglyceride concentrations (410-850 mg/dl) were measured in four members of a family of five from Franconia in Germany. The cause was hyperglyceridaemia on the basis of glycerol kinase deficiency. None had any symptoms and no other metabolic anomaly was demonstrated. The possibility of glycerol kinase deficiency should be considered in any case of elevated serum triglyceride concentration but with clear serum, normal lipid electrophoresis and lack of response to lipid-lowering measures.

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Year:  1985        PMID: 2986935     DOI: 10.1055/s-2008-1068916

Source DB:  PubMed          Journal:  Dtsch Med Wochenschr        ISSN: 0012-0472            Impact factor:   0.628


  5 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

Review 3.  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

4.  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

5.  Gestational Diabetes Associated with a Novel Mutation (378-379insTT) in the Glycerol Kinase Gene.

Authors:  Yao H Zhang; Johan L Van Hove; Edward R B McCabe; Katrina M Dipple
Journal:  Mol Genet Metab Rep       Date:  2015-09-01
  5 in total

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