Urate production in heterozygotes for glucose-6-phosphatase deficiency

Stormont, Delma Ann; Davies, C.; Emmerson, B. T.

doi:10.1016/0009-8981(76)90544-1

Cited by 5 publications

(2 citation statements)

References 14 publications

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“…and fibroblast levels have been examined (9,23). Normal red cell PRPP levels are found in our patient, and are not lowered Patient with GSD type 111.…”

Section: Materials and Methods Discussionmentioning

confidence: 57%

Uric Acid Metabolism in Therapy of Glycogen Storage Disease Type I

Benke

Gold

1978

Pediatr Res

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SummaryFactors which may explain lower serum uric acid in a new therapy of patients with glycogen storage disease (GSD) type I have been studied. [1-14C]Glycine incorporation into urine uric acid was 0.68% of the injected dose during a 6-day period of frequent high carbohydrate feedings, 0.40% with the same diet and nocturnal nasogastric feeding by Vivonex, and 0.18% in a control patient with GSD type 111. Fractional renal uric acid excretion in the patient with GSD type I increased from 11.3% to 26.3% after beginning nocturnal nasogastric feeding of Vivonex. Red cell phosphoribosylpyrophosphate levels were not changed by the therapy. Addition of Vivonex nocturnal feedings to frequent high carbohydrate feedings ( I ) decreased the accelerated de novo purine synthesis to a level still higher than control and (2) increased fractional renal uric acid excretion. SpeculationNear normalization of purine metabolism with nocturnal feeding should decrease the risk of gout in GSD type I.

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“…and fibroblast levels have been examined (9,23). Normal red cell PRPP levels are found in our patient, and are not lowered Patient with GSD type 111.…”

Section: Materials and Methods Discussionmentioning

confidence: 57%

Uric Acid Metabolism in Therapy of Glycogen Storage Disease Type I

Benke

Gold

1978

Pediatr Res

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“…In our study, non-specific activity in platelets accounted for up to 70% of total phosphatase activity. Stormont et al (1976) used the assay of glucose-1-phosphatase activity to measure non-specific activity. This may not be valid for platelet assay, as platelets contain a phosphoglucomutase that converts glucose 1phosphate to glucose 6-phosphate (Schrijver et al 1975).…”

Section: Discussionmentioning

confidence: 99%

Unreliability of platelet glucose‐6‐phosphatase for the diagnosis of glycogen storage disease type Ia

Goldberg

Terleaven

Koresawa

et al. 1992

J of Inher Metab Disea

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The diagnosis of glycogen storage disease type Ia currently uses enzyme analysis of liver tissue. This requires liver biopsy in the at-risk neonate or fetus. Conflicting reports have appeared in the literature on the use of peripheral platelet glucose-6-phosphatase activity for the diagnosis of this disorder. We have applied a sensitive radiometric assay system to the measurement of glucose-6-phosphatase activity in peripheral platelets. Two families with affected members were analysed, revealing no differences in glucose-6-phosphatase activity as compared with control values. Platelet measurement of glucose-6-phosphatase does not appear to be useful for the diagnosis of glycogen storage disease type Ia.

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Clinical and Enzymological Studies in a Child with Type I Glycogen Storage Disease Associated with Partial Deficiency of Hepatic Glucose-6-Phosphatase

Nuki

Parker

1980

Advances in Experimental Medicine and Biology

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Urate production in heterozygotes for glucose-6-phosphatase deficiency

Cited by 5 publications

References 14 publications

Uric Acid Metabolism in Therapy of Glycogen Storage Disease Type I

Uric Acid Metabolism in Therapy of Glycogen Storage Disease Type I

Unreliability of platelet glucose‐6‐phosphatase for the diagnosis of glycogen storage disease type Ia

Clinical and Enzymological Studies in a Child with Type I Glycogen Storage Disease Associated with Partial Deficiency of Hepatic Glucose-6-Phosphatase

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