caa a22 4500 37886954X CHVBK 20180305123406.0 cr unu---uuuuu 161128e20030127xx s 000 0 eng 10.1515/CCLM.2003.009 doi (NATIONALLICENCE)gruyter-10.1515/CCLM.2003.009 Glycerol Metabolism and the Determination of Triglycerides -Clinical, Biochemical and Molecular Findings in Six Subjects [Elektronische Daten] [Christina Hellerud, Alberto Burlina, Carlo Gabelli, James R. Ellis, Per-Georg Nyholm, Sven Lindsted] Recent recommendations in the National Cholesterol Education Program Expert Panel on Detection, Evaluation and Treatment of High Blood Cholesterol in Adults (ATPIII) are expected to increase the number of triglyceride (TG) determinations and consequently the risk of misinterpretation of "non-blanked” results with co-determination of free glycerol. Glycerol-kinase deficiency (GKD) is one cause of falsely elevated TG results. The natural history of isolated GKD with symptom-free cases and cases with e.g. severe episodes of hypoglycemia and/or ketoacidosis challenges the laboratories to identify cases of GKD and family members at risk. "Blanked” methods reporting both glycerol and TG concentration are therefore desirable. Molecular studies of the glycerol kinase (GK) and DAX1 genes were performed on four cases of "persistent hypertriglyceridemia” found in an Italian population and on two pediatric cases with high serum glycerol concentration. Two new missense mutations were found (C358Y, T96I). Molecular modeling on GK from E. coli, indicate that these mutations are located in parts of the enzyme important for enzyme formation or activity. One splice-site mutation, (IVS9A-1G>A), was found in two brothers. Splice-junction analysis indicates that it destroys the splice site and results in a mixture of mRNA. Deletion of the GK and DAX1 genes was found in one child with symptoms of adrenal failure. A female with glycerolemia and glyceroluria had normal GK activity but possibly slightly decreased ability to oxidize glycerol. Copyright © 2003 by Walter de Gruyter GmbH & Co. KG Medical equipment & techniques nationallicence Medical diagnosis nationallicence Diseases & disorders nationallicence Hellerud Christina aut Burlina Alberto aut Gabelli Carlo aut Ellis James R. aut Nyholm Per-Georg aut Lindsted Sven aut Clinical Chemistry and Laboratory Medicine Walter de Gruyter 41/1(2003-01-27), 46-55 1434-6621 41:1<46 2003 41 cclm https://doi.org/10.1515/CCLM.2003.009 text/html Onlinezugriff via DOI 1 research article jats NATIONALLICENCE 856 40 https://doi.org/10.1515/CCLM.2003.009 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Hellerud Christina aut NATIONALLICENCE 700 1- Burlina Alberto aut NATIONALLICENCE 700 1- Gabelli Carlo aut NATIONALLICENCE 700 1- Ellis James R. aut NATIONALLICENCE 700 1- Nyholm Per-Georg aut NATIONALLICENCE 700 1- Lindsted Sven aut NATIONALLICENCE 773 0- Clinical Chemistry and Laboratory Medicine Walter de Gruyter 41/1(2003-01-27), 46-55 1434-6621 41:1<46 2003 41 cclm CC0 http://creativecommons.org/publicdomain/zero/1.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-gruyter