Human glucose 6-phosphate dehydrogenase (G6PD) has a particularly large number of variants resulting from point mutations; some 60 mutations have been sequenced to date. Many variants, some polymorphic, are associated with enzyme deficiency. Certain variants have severe clinical manifestations; for such variants, the mutant enzyme almost always displays a reduced thermal stability. A homology m...

Fernandes, J., and Pikaar, N. A. (1972). Archives of Disease in Childhood, 47, 41. Ketosis in hepatic glycogenosis. The occurrence of ketosis in 41 patients with liver glycogenosis and a control group of 22 children was investigated. Fasting ketosis was present in children with a deficiency of the debranching enzyme system and in young children with a deficiency of the phosphorylase system, but...

Objectives: The single most inherited enzyme deficiency is that of glucose-6-phosphate dehydrogenase (G6PD) with a presence in almost 400 million theworld’spopulation. Thenumber reported G6PD mutations 186. Furthermore, geographical location determining factor for the prevalence G6PD. Therefore, much existing epidemiological literature concerning this issue Turkey has data specific to cities an...

Pyruvate carboxylase (PC) is a regulated mitochondrial enzyme that catalyzes the conversion of pyruvate to oxaloacetate, a critical transition that replenishes citric acid cycle intermediates and facilitates other biosynthetic reactions that drive anabolism. Its deficiency causes multiorgan metabolic imbalance that predominantly manifests with lactic acidemia and neurological dysfunction at an ...

Cultured skin fibroblasts or lymphoblastoid cells from eight patients with clinical symptoms of prolidase deficiency were analyzed in terms of enzyme activity, presence of material crossreacting with specific antibodies, biosynthesis of the polypeptide, and mRNA corresponding to the enzyme. There are at least two enzymes that hydrolyze imidodipeptides in these cells and these two enzymes could ...

?-Galactosidase (?-Gal) is a widely used enzyme as reporter gene in the field of molecular biology which hydrolyzes ?-galactosides into monosaccharides. ?-Gal an essential humans and its deficiency or overexpression results several rare diseases. Cellular senescence probably one most relevant physiological disorders that involve enzyme. In this review, we assess progress made to date design mol...

Cultured skin fibroblasts from patients deficient for the enzyme hypoxanthine-guanine phosphoribosyltransferase (PRT) activity show very low but nevertheless significant levels of apparent PRT enzyme despite absence of detectable activity (<0.004% of normal) in erythrocytes of the same patients. In fibroblasts this mutant enzyme is more heat labile than the normal enzyme. These findings indicat...