Christina Hellerud, Alberto Burlina, Carlo Gabelli, James R. Ellis, Per-Georg Nyholm, Sven Lindsted
Glycerol Metabolism and the Determination of Triglycerides –Clinical, Biochemical and Molecular Findings in Six Subjects
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.
Clinical Chemical Laboratory Medicine, Walter de Gruyter
Print ISSN: 1434-6621
Volume: 41, 01/2003
Pages: 46 - 55
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