Syndromes with increased red cell glutathione (GSH).

摘要: GSH, the most abundant erythrocyte thiol, is synthesized from its constituent amino acids by two ATP-dependent enzymes present in mature red cell. Its unusual gamma-glutamyl linkage precludes degradation any known cell peptidase. The lacks a complete "gamma-glutamyl cycle" as described Meister. GSH has important enzymatic and non-enzymatic roles oxidoreduction reactions. As specific co-factor of glutathione peroxidase, it participates reduction harmful organoperoxides. Oxidized reconverted to via NADPH-dependent, reductase. NADPH generated solely dehydrogenases pentosephosphate shunt. Increased concentrations are normally neonatal erythrocytes. For reasons not clear, they an epiphenomenon inherited pyrimidine 5'-nucleotidase deficiency. Many syndromes heterogeneous etiology having common dyserythropoietic anemia ineffective erythropoiesis despite cellular bone marrow also exhibit abnormally high one component constellation metabolic abnormalities. In single patient with Lesch-Nyhan syndrome studied us, was increased. A kindred dominantly transmitted (or possibly x-chromosome linked) hereditary hemolytic which only thus far detected abnormality increased been documented. fundamental molecular lesion this unknown.