Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement [PDF]
Orphanet Journal of Rare Diseases, 2020 Background Glycogen storage disease type I (GSDI) is an inborn error of carbohydrate metabolism caused by mutations of either the G6PC gene (GSDIa) or the SLC37A4 gene (GSDIb).
Alessandro Rossi +9 more
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LIVER TRANSPLANTATION FOR TYPE I GLYCOGEN STORAGE DISEASE [PDF]
Lancet, The, 1983 Abstract A 161/2-year-old girl with type I glycogen storage disease was treated by orthotopic liver transplantation under cyclosporin/steroid immunosuppression. All metabolic stigmata of the disease were relieved and 1 year postoperatively she follows a normal diet and lifestyle.
J Jeffrey Malatack +2 more
exaly +3 more sources
Use of waxy maize heat modified starch in the treatment of children between 2 and 5 years with glycogen storage disease type I: A retrospective study [PDF]
Molecular Genetics and Metabolism Reports, 2019 Background: Glycogen storage disease type I (GSDI) is caused by deficiency of the enzyme glucose-6-phosphatase or glucose-6-phosphate transporter. Mainstay of treatment is provision of uncooked cornstarch (and/or continuous nocturnal pump feed (CNPF) to ...
Ghada Hijazi +6 more
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Hyperfiltration and renal disease in glycogen storage disease, type I
Kidney International, 1989 A prospective study of 14 patients (ages 6 months to 33 years) with glycogen storage disease, Type I (GSD-I) was carried out in order to define the character and frequency of renal dysfunction. A marked increase in the glomerular filtration rate (GFR) was documented in virtually all subjects, with the mean GFR raised by approximately 50%, to the range ...
Baker, Lester +7 more
openaire +3 more sources
Pulmonary Arterial Hypertension in Glycogen Storage Disease Type I
Journal of Inborn Errors of Metabolism and Screening, 2017 Pulmonary arterial hypertension (PAH) is a rare and highly fatal disease that has been reported in 8 patients with glycogen storage disease type I (GSDI).
Rachel D. Torok MD +5 more
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Cellular and metabolic effects of renin-angiotensin system blockade on glycogen storage disease type I nephropathy. [PDF]
Hum Mol Genet, 2022 Glycogen Storage Disease Type I (GSDI) is an inherited disease caused by glucose-6 phosphatase (G6Pase) deficiency, leading to a loss of endogenous glucose production and severe hypoglycemia. Moreover, most GSDI patients develop a chronic kidney disease (
Monteillet L +11 more
europepmc +2 more sources
Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I. [PDF]
J Inherit Metab Dis, 2022 BACKGROUND The metabolic defect in glycogen storage disease type I (GSDI) results in fasting hypoglycemia and typical secondary metabolic abnormalities (e.g. hypertriglyceridemia, hyperlactatemia, hyperuricemia).
Mathis T +6 more
europepmc +2 more sources
"Bull's eye" appearance of hepatocellular adenomas in patients with glycogen storage disease type I - atypical magnetic resonance imaging findings: Two case reports. [PDF]
World J Clin Cases, 2021 BACKGROUND Hepatocellular adenomas are rare tumors that can occur in patients with glycogen storage disease type I. CASE SUMMARY We herein report two cases of histologically proven hepatocellular adenomas in patients with glycogen storage disease type I.
Vernuccio F +5 more
europepmc +2 more sources
Assessment of auditory functions in patients with hepatic glycogen storage diseases
The Turkish Journal of Pediatrics, 2022 Background. Hepatic glycogen storage diseases are a group of diseases manifesting mainly with hypoglycemia and hepatomegaly. The patients require frequent daytime and nocturnal feedings.
Merve Emecen Şanlı +9 more
doaj +1 more source
Hyperammonemia associated with glycogen storage disease type I
The Turkish Journal of Pediatrics, 1982 M Tunçer, H Yalçin, I Ozalp, M Cağlar
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