Improved preparation of hepatic microsomes for in vitro diagnosis of inherited disorders of the glucose-6-phosphatase system.
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Disruption of microsomal membranes after freezing liver samples can undermine the reliability of in vitro enzymatic diagnosis of the type 1 glycogen storage diseases. However, freezing of biopsy material is necessary if biopsy samples are to be safely transported to the place of assay. We have therefore examined several different methods (each of which could easily be carried out in routine hospital laboratories) of preparing and freezing liver tissue before analysis for glucose-6-phosphatase (EC 3.1.3.9) enzyme activity, and determination of microsomal intactness. Our study showed that homogenizing fresh liver, and centrifuging the homogenate at 10,000 x g for 10 min at 4 degrees C, followed by freezing the resulting supernatant material at -80 degrees C, provided the optimum source of material for subsequent preparation of microsomes for analysis of glucose-6-phosphatase activity. We also demonstrated that 1-naphthol UDP glucuronosyltransferase (EC 2.4.1.17) activity could be used to assess microsomal intactness in cases of type 1a glycogen storage disease, where mannose-6 phosphatase activity cannot be used. (+info)
Functional analysis of mutations in the glucose-6-phosphate transporter that cause glycogen storage disease type Ib.
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Hematological profile of twenty-nine tribal compound cases of hemoglobinopathies and G-6-PD deficiency in rural Orissa.
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BACKGROUND: Hematogenetic disorders are commonly encountered in Orissa state in Central-Eastern India. Hemoglobinopathies and G-6-PD deficiency are the most frequently occurring hereditary hemolytic disorders causing high morbidity and mortality in vulnerable people. AIMS: There is no study available reporting combined condition of hemoglobinopathies and G-6-PD deficiency in a single individual from India. This study aims to assess the coincidence of G-6-PD enzyme deficiency with different hemoglobinopathies and beta-thalassemia and to evaluate the influence of combined conditions on the hematological expression. SETTINGS AND DESIGN: The study was carried out in rural Orissa with a random sampling procedure. MATERIALS AND METHODS: Following the standard methodology and techniques, this study highlights 29 tribal cases of compound occurrence of hemoglobinopathy with G-6-PD deficiency in a randomly conducted study in Sundargarh district of Orissa. STATISTICAL ANALYSIS: Results were subjected to statistical analysis. RESULTS: Both female heterozygotes and homozygotes of G-6-PD deficiency in association with different hemoglobinopathies showed reduced values of hematological indices: hemoglobin level, MCV, MCH, MCHC and RBC in comparison to normals. Red cell indices were found further reduced in male G-6-PD deficiency concurrence with hemoglobinopathies in homozygous condition, i.e. sickle cell disease (HbSS) or hemoglobin E disease (HbEE). Hematological indices were significantly lower except WBC counts and fetal hemoglobin in male G-6-PD deficiency with co-existing homozygous sickle cell disease in comparison with counterpart sickle cell trait and normal controls. CONCLUSIONS: Hemoglobin polymorphism with G-6-PD deficiency is advantageous to the community against lethal effects of malaria especially against Plasmodium falciparum at population level, but their combination is harmful at the individual level because of low levels of red cell indices to cope with the routine human physiology. (+info)
Use of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib.
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BACKGROUND: Type I glycogen storage disease (GSD) is caused by a deficiency of glucose-6-phosphatase resulting in severe fasting hypoglycemia. OBJECTIVE: We compared the efficacy of a new modified starch with the currently used cornstarch therapy in patients with type Ia and Ib GSD. DESIGN: This was a randomized, 2-d, double-blinded, crossover pilot study comparing the commonly used uncooked cornstarch with the experimental starch in 12 subjects (6 GSDIa, 6 GSDIb) aged >or=13 y. At 2200, the subjects were given 100 g of digestible starch, and glucose and lactate were measured hourly until the subject's plasma glucose concentration reached 60 mg/dL or until the subject had fasted for 10 h. The order in which the products were tested was randomized in a blinded fashion. RESULTS: The matched-pair Gehan rank test for censored survival was used to compare the therapies. The experimental starch maintained blood glucose concentrations significantly longer than did the traditional therapy (P = 0.013) in the 2-sided analysis. Most of the benefit was found to be after glucose concentrations fell below 70 mg/dL. The currently used cornstarch resulted in higher peak glucose concentrations and a more rapid rate of fall than did the new starch. CONCLUSIONS: The experimental starch was superior to standard therapy in preventing hypoglycemia (+info)
Structure-function study of the glucose-6-phosphate transporter, an eukaryotic antiporter deficient in glycogen storage disease type Ib.
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