Hepatic lipase deficiency in a Middle-Eastern-Arabic male.

Nafila Al Riyami, Abdullah M. Al-Ali, Ahmad J. Al-Sarraf, John Hill, Kristina Sachs-Barrable, Robert Hegele, Kishor M. Wasan, Jiri Frohlich

Research output: Contribution to journalArticle

4 Citations (Scopus)

Abstract

Hepatic lipase (HL) deficiency is a rare genetic disorder that has been associated with premature atherosclerosis despite high plasma high-density lipoprotein (HDL) cholesterol concentrations in the affected individuals. The authors describe the clinical and biochemical features of HL deficiency in a young male of Middle-Eastern-Arabic origin. This is the first report of cholesterol ester transfer protein (CETP) activity and mass in HL deficiency in a patient from this ethnic group. While the CETP mass was high, its activity was low, a discrepancy likely due to the abnormal composition of patient's HDL particles.

Original languageEnglish
JournalBMJ Case Reports
Volume2010
Publication statusPublished - 2010

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Lipase
Cholesterol Ester Transfer Proteins
Liver
Inborn Genetic Diseases
HDL Lipoproteins
Ethnic Groups
HDL Cholesterol
Atherosclerosis

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Al Riyami, N., Al-Ali, A. M., Al-Sarraf, A. J., Hill, J., Sachs-Barrable, K., Hegele, R., ... Frohlich, J. (2010). Hepatic lipase deficiency in a Middle-Eastern-Arabic male. BMJ Case Reports, 2010.

Hepatic lipase deficiency in a Middle-Eastern-Arabic male. / Al Riyami, Nafila; Al-Ali, Abdullah M.; Al-Sarraf, Ahmad J.; Hill, John; Sachs-Barrable, Kristina; Hegele, Robert; Wasan, Kishor M.; Frohlich, Jiri.

In: BMJ Case Reports, Vol. 2010, 2010.

Research output: Contribution to journalArticle

Al Riyami, N, Al-Ali, AM, Al-Sarraf, AJ, Hill, J, Sachs-Barrable, K, Hegele, R, Wasan, KM & Frohlich, J 2010, 'Hepatic lipase deficiency in a Middle-Eastern-Arabic male.', BMJ Case Reports, vol. 2010.
Al Riyami N, Al-Ali AM, Al-Sarraf AJ, Hill J, Sachs-Barrable K, Hegele R et al. Hepatic lipase deficiency in a Middle-Eastern-Arabic male. BMJ Case Reports. 2010;2010.
Al Riyami, Nafila ; Al-Ali, Abdullah M. ; Al-Sarraf, Ahmad J. ; Hill, John ; Sachs-Barrable, Kristina ; Hegele, Robert ; Wasan, Kishor M. ; Frohlich, Jiri. / Hepatic lipase deficiency in a Middle-Eastern-Arabic male. In: BMJ Case Reports. 2010 ; Vol. 2010.
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