This study aims to define the prevalence and the molecular basis of G6PD deficiency in the Negrito tribe of the Malaysian Orang Asli. Four hundred and eighty seven consenting Negrito volunteers were screened for G6PD deficiency through the use of a fluorescent spot test. DNA from deficient individuals underwent PCR-RFLP analysis using thirteen recognized G6PD mutations. In the instances when th...

Highly purified platelet glucose-6-phosphate dehydrogenase (G6PD; D-glucose-6-phosphate:NADP+ 1-oxidoreductase, EC 1.1.1.49) can be modified in its isoelectric point and its molecular specific activity by extracts of some leukemic granulocytes. The "G6PD modifying factors" are relatively small molecules (molecular weight slightly under 5000), thermostable, dialyzable, and ultrafilterable. These...

glucose-6-phosphate dehydrogenase is an essential enzyme to cell growth. its deficiency of enzyme plays an important role in senescence and death signaling. also, it is actually the most common clinically important enzyme defect, not only in hematology, but also among all human known diseases. clinical consequences of enzyme deficiency are: neonatal hyperbilirubinemia, acute hemolytic anemia, a...

Erythrocytes (approximately equal to 50% reticulocytes) obtained from a splenectomized patient with a thermolabile variant of glucosephosphate isomerase (GPI) deficiency showed a striking degree of crenation and decreased filterability through 3-micrometer Nuclepore filters (Nuclepore Corp., Pleasanton, Calif.). Membranes prepared by hypotonic lysis of such erythrocytes were found to contain a...

I N RECENT YEARS, specffic inborn erythrocyte enzyme deficiencies have l)een implicated in the etiology of certain hereditary hemolytic anemias not characterized by spherocytosis. This report defines still another instance in which hereditary hemolytic anemia has been found to be associated with a deficiency in a specific glycolytic enzyme. The propositus has had a hemolytic syndrome present si...

A solid-phase radioimmunoassay for human glucose-6-phosphate dehydrogenase (D-glucose-6-phosphate: NADP+ 1-oxidoreductase; EC 1.1.1.49) was developed that allowed the specific activity of this enzyme protein to be measured in lysates from whole erythrocyte populations, in lysates from erythrocytes of different ages, and in purified samples. The enzyme was highly purified from erythrocytes of si...

Alcohol dehydrogenase AD L-Iditol dehydrogenase ID (a) Lactate dehydrogenase LD Hydroxybutyrate dehydrogenase HBD Malate dehydrogenase MD Isocitrate dehydrogenase (NADP+)ICD Phosphogluconate dehydrogenase (decarboxylating) PGD Glucose-6-phosphatedehydrogenaseGPD (b) Glyceraldehyde-phosphate dehydrogenase GAD (c) Glutamate dehydrogenase (NAD(P)+) GMD Glutathione reductase (NAD(P)H) GTR Catalase ...

The A(-) type of glucose 6-phosphate dehydrogenase (EC 1.1.1.49) has been isolated from human erythrocytes deficient in this enzyme. The specific activity of the purified protein is similar to that previously reported for the enzyme isolated from normal, nondeficient erythrocytes. During the purification procedure, a portion of the A(-) enzyme converts spontaneously, from the native "fraction I...