Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:3.1.3.9 (glucose-6-phosphatase)
 3,081 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Urinary lactate was analyzed in 53 normal children, 7 children with glucose-6-phosphatase-deficient glycogenosis, 1 child with fructose-1,6-diphosphatase deficiency and 1 child with pyruvate dehydrogenase deficiency. Lactate in 24-h urine was expressed as concentration, total excretion, excretion per kg body weight and per 1.73 m2 body surface, and as lactate/creatinine quotient. Of these parameters, the lactate concentration in 24-h urine showed the smallest variation in normal children (0.155 +/- 0.053 mM), whereas in patients with one of the above mentioned enzymopathies 10-300-fold elevations were found. The lactate/creatinine quotient, normal range 0.010 to 0.058 (mM/mM) was also used to correct for unnoticed losses of urine. Both parameters, used in conjunction with blood lactate analysis, are suitable for a first screening of patients with enzymopathies of carbohydrate metabolism, and for the follow-up study of the steady or unsteady state of the patient with an enzyme defect of carbohydrate metabolism.
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PMID:Urinary lactate excretion in normal children and in children with enzyme defects of carbohydrate metabolism. 17 40

We demonstrate that glucose-6-phosphatase, pyrophosphate-glucose phosphotransferase, carbamyl phosphate-glucose phosphotransferase and inorganic pyrophosphatase activities are deficient in livers of patients with type I glycogen storage disease. This provides strong genetic evidence that these enzymatic activities reside in a single protein or share a common polypeptide chain.
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PMID:Genetic evidence for the common identity of glucose-6-phosphatase, pyrophosphate-glucose phosphotransferase, carbamyl phosphate-glucose phosphotransferase and inorganic pyrophosphatase. 18 42

A procedure for the determination of liver microsomal glucose-6-phosphatase is described. Homogenization and ultracentrifrigation were used to prepare a precipitate whose character was defined by monitoring the desire enzyme activity which serves as a marker. Activity of the enzyme was determined by means of a sensitive colorimetric reaction for the product, inorganic phosphate. Non-enzymatic hydrolysis problems with the substrate are minimized in this procedure by the masking action of citrate. The final heteropoly blue color appears to be considerably sensitized by interaction of phosphomolybdous ion with arsenite. The stability of the relatively labile enzyme was ensured by chelating any metals present with ethylene diamine tetraacetic acid. The overall results obtained by the procedure appear to be useful as an aid in the diagnosis of Type I glycogenosis, a glycogen storage disease called Von Gierke's disease.
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PMID:Determination of liver microsomal glucose-6-phosphatase. 19 25

Biochemical and clinical studies on a patient with hepatic glycogen storage disease are reported. The patient showed many of the clinical and biochemical features of type I glycogenosis (glucose-6-phosphatase deficiency), but had normal activities of the following enzymes in liver tissue: glucose-6-phosphatase (EC3.1.3.9); amylo-1,6-glucosidase (EC3.2.1.33); glycogen phosphorylase (EC2.4.1.1); fructose-1,6-diphosphatase (EC3.1.3.11). The urinary excretion of 2-oxoglutaric acid was greatly increased in this patient and in a case of enzymologically proven type I glycogenosis. Abnormal 2-oxoglutaric aciduria has not been previously reported in the glycogen storage diseases. The results are discussed in relation to the possible nature of the underlying biochemical defect in patients of this type.
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PMID:Studies on a patient with in vivo evidence of type I glycogenosis and normal enzyme activities in vitro. 20 52

In glycogenosis type 1 (GT1), glucose synthesis is deficient due to absence of glucose-6-phosphatase. Development of renal failure in such a patient provided the opportunity to test whether or not this metabolic defect could be reversed by a renal allograft, which contains the missing enzyme and has potential for glucose synthesis. Despite normalization of renal function and both glucocorticoid therapy and the infusion of amino-acid precursors of glucose, fasting hypoglycemia persisted unabated. We conclude that a funtioning renal allograft is incapable of meeting the metabolic demands of a patient with glucose-6-phosphatase deficiency.
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PMID:Renal tranplantation in type 1 glycogenosis. Failure to improve glucose metabolism. 20 6

The classical features of Type I glycogen storage disease (McKusick 23220) (GSD) are hepatomegaly, hypoglycaemia, and acidosis, enlargement of the kidneys and short stature. Glucose-6-phosphatase (EC 3.1.3.9) activity is defective not only in liver and kidney but also in small intestine (Field et al., 1965). In addition to the classical features, many patients suffer from episodes of diarrhoea (Fine et al., 1969). At the Hospital for Sick Children, Great Ormond Street, patients with the commoner forms of hepatic glycogen storage disease have episodes of diarrhoea or loose stools more commonly than was suspected. We have investigated small intestinal function in three patients with Type I GSD by both in vitro and in vivo techniques.
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PMID:Disordered intestinal function in glycogen storage disease. 22 44

Two patients with apparent clinical manifestations of glycogen storage disease were described. The curves obtained upon glucose and adrenalin tolerance tests were indicative of glycogen storage disease Type I. Liver biopsies showed the increased glycogen concentration; however, the activities of the enzymes involved in glycogen metabolism, including glucose-6-phosphatase activity, were within normal limits or even slightly enhanced. On the basis of the biochemical data, Type Ib glycogenosis was diagnosed. The analytical ultracentrifugation studies of serum lipoproteins of those patients showed that concentration of very low density lipoproteins was considerably increased.
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PMID:Two cases of unusual Type I glycogenosis. 27 30

More than ten patients with glycogen-storage disease, which were classified as patients with glycogenosis of the I type--deficiency in glucose-6-phosphatase) on the basis of clinical data and biochemical analyses in vivo, were detected within the last few years. But activity of glucose-6-phosphatase was found to be normal in biopsy of samples of the liver tissue obtained from these patients. This disease was termed as glycogenosis of the Ib type. A hypothesis is advanced, according to which the discrepancy in data on biochemical study of the patients in vivo and in vitro is due to absence of a specific permease in liver tissue, which transfers glucose-6-phosphate from cytosol onto the innesurface of membranes of cytoplasmic network, where glucose-6-phosphatase is located.
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PMID:[Disordered glucose-6-phosphate transport as a possible cause of glycogenosis type Ib]. 38 25

Two patients are described with chronic hypoglycaemia; the first having glucose-6-phosphatase deficiency (type I glycogen storage disease), and the second fructose 1:6-diphosphatase deficiency. Both cases were associated with a bleeding diathesis, a defect of platelet aggregation, and a deficiency of platelet adenine nucleotides. The effect on the platelet abnormalities of a period of normoglycaemia was studied in both patients. Correction of the platelet abnormalities occurred rapidly after stabilization of the blood glucose within the normal range. Normal function persisted for the duration of the normoglycaemia, facilitating diagnostic liver biopsy and surgical procedures. A biochemical explanation for the nucleotide deficiency is suggested.
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PMID:Defect of platelet function associated with chronic hypoglycaemia. 94 29

Five patients with glycogen storage disease are described. Hypoglycemia was observed in all patients after an overnight fast, and glycemic and lactatemic curves obtained after oral administration of glucose or galactose were typical of those seen in Type III glycogenosis. An increase of liver glycogen up to 12-16% and complete absence of liver amylo-1,6-glucosidase were found in liver tissue samples obtained by needle biopsy. The patients were diagnosed as having Type III glycogenosis. In two patients the absence of amylo-1,6-glycosidase was accompanied by a sharp decline of liver phosphorylase activity. In one patient a decline of glucose-6-phosphatase activity was observed. The structure of liver glycogen was different in different patients, and so were the types of glycemic and lactatemic curves obtained upon protein tolerance tests. The above phenomena might be explained by some secondary disturbances in the activity of enzymes (phosphorylase, glucose-6-phosphatase) involved in the metabolism of liver glycogen of these patients.
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PMID:Some cases of Type III glycogen storage disease. 106 45


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