Change search
ReferencesLink to record
Permanent link

Direct link
Childhood-onset chylomicronaemia with reduced plasma lipoprotein lipase activity and mass: identification of a novel GPIHBP1 mutation
Umeå University, Faculty of Medicine, Department of Medical Biosciences, Physiological chemistry.
Show others and affiliations
2011 (English)In: Journal of Internal Medicine, ISSN 0954-6820, E-ISSN 1365-2796, Vol. 270, no 3, 224-228 p.Article in journal (Refereed) Published
Abstract [en]

Objectives:  Deficiency in the catabolism of triglyceride-rich lipoproteins is the main cause of childhood-onset chylomicronaemia syndrome. Missense mutations in lipoprotein lipase (LPL) or in proteins influencing LPL activity or stability have been shown to be critical determinants of chylomicronaemia syndrome. The main objective of the present study was to assess the primary deficiency in five cases of childhood-onset chylomicronaemia syndrome.

Setting:  Lipid clinic at a university hospital,

Subjects:  Subjects presenting with severe hypertriglyceridaemia and chylomicronaemia syndrome in which reduced LPL activity and mass was observed. Interventions:  Analysis of LPL and GPIHBP1 genes.

Results:  Among the five patients, one novel homozygous missense mutation (p.C68Y) in exon 3 of GPIHBP1 was identified. The other four patients were homozygous for the common LPL mutation p.G188E.

Conclusion:  These findings provide further evidence that GPIHBP1 is involved in the catabolism of triglyceride-rich lipoproteins and plays a role in childhood-onset chylomicronaemia.

Place, publisher, year, edition, pages
2011. Vol. 270, no 3, 224-228 p.
Keyword [en]
chylomicronaemia syndrome;GPIHBP1;lipoprotein lipase;mutations
National Category
Medical and Health Sciences
Research subject
Physical Chemistry
URN: urn:nbn:se:umu:diva-40809DOI: 10.1111/j.1365-2796.2011.02361.xPubMedID: 21314738OAI: diva2:402964
Available from: 2011-03-10 Created: 2011-03-10 Last updated: 2011-10-31Bibliographically approved

Open Access in DiVA

No full text

Other links

Publisher's full textPubMed

Search in DiVA

By author/editor
Kroupa, OlessiaOlivecrona, Gunilla
By organisation
Physiological chemistry
In the same journal
Journal of Internal Medicine
Medical and Health Sciences

Search outside of DiVA

GoogleGoogle Scholar
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Altmetric score

Total: 44 hits
ReferencesLink to record
Permanent link

Direct link