Urate production and excretion were studied in heterozygous parents of a child with glucose-6-phosphatase deficiency. Both parents demonstrated glucose-6-phosphatase concentrations in platelets intermediate between those in the homozygote and the normal. The miscible urate pool and turnover rate, the rate of incorporation of [14C]glycine into urate, the renal clearance of urate and the percentage excretion of labelled urate by the renal route were within the normal range in both heterozygotes, as were the serum cholesterol and triglyceride concentrations. Thus, a partial deficiency of glucose-6-phosphatase was not associated with the abnormalities of urate or lipoprotein metabolism which are features of homozygous glucose-6-phosphatase deficiency. Erythrocyte phosphoribosyl-pyrophosphate concentration, an increased concentration of which has been postulated as the mechanism responsible for the increased de novo purine biosynthesis in glucose-6-phosphatase deficiency, was found to be within the normal range in erythrocytes from both a homozygote and a heterozygote for this condition.
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http://dx.doi.org/10.1016/0009-8981(76)90544-1 | DOI Listing |
Mol Genet Genomic Med
January 2025
Group for Rare Disease Research and Therapeutics Development, Institute of Molecular Genetics and Genetic Engineering, University of Belgrade, Belgrade, Republic of Serbia.
Introduction: Chronic endoplasmic reticulum (ER) stress and increased apoptosis are involved in the pathogenesis of glycogen storage disease Ib (GSD Ib), whereas small molecule phenylbutyrate (4-PBA) showed the capability of reducing ER stress-induced apoptosis. The objective was to generate an in vitro system in which capability of small molecules (SMs) to influence ER stress and apoptosis could be screened at the expression level.
Methods: G6PT-deficient FlpInHEK293 cell line was created and validated using the CRISPR/Cas9 knockout method.
Orphanet J Rare Dis
January 2025
Laboratory of Metabolic Diseases, Department of Laboratory Medicine, University Medical Center Groningen, University of Groningen, Hanzeplein 1, Postbus, Groningen, 30001 - 9700 RB, the Netherlands.
Background: Glycogen storage disease (GSD) Ia is an ultra-rare inherited disorder of carbohydrate metabolism. Patients often present in the first months of life with fasting hypoketotic hypoglycemia and hepatomegaly. The diagnosis of GSD Ia relies on a combination of different biomarkers, mostly routine clinical chemical markers and subsequent genetic confirmation.
View Article and Find Full Text PDFBMC Med Genomics
January 2025
Laboratory of Clinical Immunology, Inflammation, and Allergy (LICIA), Faculty of Medicine and Pharmacy of Casablanca, Hassan II University, Casablanca, Morocco.
Glycogen Storage Disease Type Ib (GSD-Ib) is a rare autosomal recessive metabolic disorder caused by mutations in SLC37A4, leading to a deficiency in glucose-6-phosphate translocase. This disorder is characterized by impaired glycogenolysis and gluconeogenesis, resulting in clinical and metabolic manifestations. We report a three-month-old Moroccan female patient presenting with doll-like facies, hepatomegaly, dysmorphic features, and developmental delays.
View Article and Find Full Text PDFNat Commun
November 2024
Section on Cellular Differentiation, Division of Translational Medicine, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, 20892, USA.
Commun Biol
November 2024
Department of Pediatrics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
Fasting hypoglycemia is a severe and incompletely understood symptom of various inborn errors of metabolism (IEM). Precision-cut liver slices (PCLS) represent a promising model for studying glucose production ex vivo. This study quantified the net glucose production of human and murine PCLS in the presence of different gluconeogenic precursors.
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