Hepatic lipase deficiency in a Middle-Eastern-Arabic male.
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.
Department of Medical Biochemistry, Sultan Qaboos University Hospital, Muscat, Oman.
Nafila
N
Al Riyami
Abdullah M
AM
Al-Ali
Ahmad J
AJ
Al-Sarraf
John
J
Hill
Kristina
K
Sachs-Barrable
Robert
R
Hegele
Kishor M
KM
Wasan
Jiri
J
Frohlich
D000328:Adult; D018912:Arabs / Q000235:genetics*; D005464:Fluorobenzenes / Q000627:therapeutic use; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors / Q000627:therapeutic use; D008049:Lipase / Q000172:deficiency* / Q000235:genetics; D008075:Lipoproteins, HDL / Q000097:blood; D008297:Male; D008877:Middle East; D011743:Pyrimidines / Q000627:therapeutic use; D000068718:Rosuvastatin Calcium; D013449:Sulfonamides / Q000627:therapeutic use
D005464:Fluorobenzenes; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors; C504173:LIPC protein, human; D008075:Lipoproteins, HDL; D011743:Pyrimidines; D013449:Sulfonamides; D000068718:Rosuvastatin Calcium; D008049:Lipase