BACKGROUND beta-thalassemia is the most common inherited single gene disorder worldwide, and glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human enzyme deficiency. The goal of this study was to compare the frequency of beta-thalassemia trait and G6PD among the Moslem and Jewish populations in Shiraz, southern Iran. METHODS We examined 201 Moslems and 187 Jewish subjec...

A phylogeny of the mosquito subfamily Anophelinae was inferred from fragments of two protein-coding nuclear genes, G6pd (462 bp) and white (801 bp), and from a combined data set (2,136 bp) that included a portion of the mitochondrial gene ND5 and the D2 region of the ribosomal 28S gene. Sixteen species from all three anopheline genera and six Anopheles subgenera were sampled, along with six spe...

BACKGROUND The analysis of the potential molecule targets of coronary artery disease (CAD) is critical for understanding the molecular mechanisms of disease. However, studies of global microarray gene co-expression analysis of CAD still remain limited. METHODS Microarray data of CAD (GSE23561) were downloaded from Gene Expression Omnibus, including peripheral blood samples from CAD patients (...

A Sardinian kindred segregating for X-linked anhidrotic ectodermal dysplasia (AED), glucose-6-phosphate dehydrogenase (G6PD) deficiency of Mediterranean type, and Xga blood antigen provides evidence against a measurable linkage between the loci for AED and G6PD. Moreover, from the segregation of the combined phenotypes in four scorable sons from two triple heterozygotes with phase known, it see...

Glucose-6-PHOSPHATE dehydrogenase (G6PD; EC 1.1.1.49) deficiency is the most common human enzymopathy, affecting more than 200 million people worldwide. Although greater than 400 variants have been described based on clinical and biochemical criteria, little is known about the molecular basis of these G6PD deficiencies. Recently, the gene that encodes human G6PD has been cloned and sequenced, w...

G6PD deficiency of the common type (Gd’ and Gd11t.d1 rranenn) results in extremely mild chronic hemolysis. In contrast, 65 males (from 47 unrelated families) have been reported with a different syndrome of severe chronic hemolysis associated with a superficially similar deficiency in the activity of G6PD. Five new such patients (from four unrelated families) are reported. Biochemical characteri...

Safe treatment of Plasmodium vivax requires diagnosis of both the infection and status of erythrocytic glucose-6-phosphate dehydrogenase (G6PD) activity because hypnozoitocidal therapy against relapse requires primaquine, which causes a mild to severe acute hemolytic anemia in G6PD deficient patients. Many national malaria control programs recommend primaquine therapy without G6PD screening but...

An unbiased screen for genes that can immortalize mouse embryonic fibroblasts identified the glycolytic enzyme phosphoglycerate mutase (PGM). A 2-fold increase in PGM activity enhances glycolytic flux, allows indefinite proliferation, and renders cells resistant to ras-induced arrest. Glucosephosphate isomerase, another glycolytic enzyme, displays similar activity and, conversely, depletion of ...

Alternative Names MSUD Branched-Chain Ketoaciduria Branched-Chain Alpha-Keto Acid Dehydrogenase Deficiency BCKD Deficiency Keto Acid Decarboxylase Deficiency Maple Syrup Urine Disease, Classic Maple Syrup Urine Disease, Intermediate Maple Syrup Urine Disease, Intermittent Maple Syrup Urine Disease, Thiamine-Responsive Maple Syrup Urine Disease, E3-Deficient, with Lactic Acidosis Maple Syrup Uri...