1/2. 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, T961). 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.- - - - - - - - - - ranking = 1keywords = ketoacidosis (Clic here for more details about this article) |
2/2. hypertriglyceridemia, acute pancreatitis, and diabetic ketoacidosis possibly associated with mirtazapine therapy: a case report.A 44-year-old woman with a history of major depression and obsessive-compulsive disorder was prescribed mirtazapine. She came to the emergency department approximately 2 months after starting therapy; severe hypertriglyceridemia, acute pancreatitis, and diabetic ketoacidosis were diagnosed. Although these adverse effects have been reported in early clinical trials, we found only three published cases of subclinical pancreatitis possibly associated with mirtazapine therapy. We suspect that mirtazapine-associated hypertriglyceridemia had contributed to the development of acute pancreatitis and diabetic ketoacidosis in our patient. All these problems resolved with supportive care and discontinuation of mirtazapine. Her serum amylase, lipase, and lipid levels were normal 2 months after the acute event occurred. health care providers should be aware of these possible adverse effects. serum glucose and triglyceride levels should be measured at baseline and monitored regularly thereafter in all patients receiving mirtazapine therapy.- - - - - - - - - - ranking = 6keywords = ketoacidosis (Clic here for more details about this article) |