Liver transplantation in glycogen storage disease type I. [PDF]
Orphanet J Rare Dis, 2014 Glycogen storage disease type I (GSDI), an inborn error of carbohydrate metabolism, is caused by defects in the glucose-6-transporter/glucose-6-phosphatase complex, which is essential in glucose homeostasis.
Boers SJ, Visser G, Smit PG, Fuchs SA.
europepmc +7 more sources
Pulmonary Arterial Hypertension in Glycogen Storage Disease Type I [PDF]
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
doaj +6 more sources
Brain Damage in Glycogen Storage Disease Type I
Pediatric Neurology Briefs, 2004 The occurrence of brain damage in 19 patients (13 girls and 6 boys) with glycogen storage disease type I (GSDI) was evaluated at the Universita “Federico II”, Naples, Italy.
J Gordon Millichap
doaj +9 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
doaj +3 more sources
Liver transplantation for type I and type IV glycogen storage disease [PDF]
European Journal of Pediatrics, 1993 Progressive liver failure or hepatic complications of the primary disease led to orthotopic liver transplantation in eight children with glycogen storage disease over a 9-year period.
Richard W. Selby +6 more
core +7 more sources
LIVER TRANSPLANTATION FOR TYPE I GLYCOGEN STORAGE DISEASE [PDF]
The Lancet, 1983 A 16½-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
J. Jeffrey Malatack +7 more
core +7 more sources
Molecular diagnosis of glycogen storage disease type I: a review. [PDF]
EXCLI J, 2019 Glycogen storage disease type I (GSD I) is a relatively rare metabolic disease with variable clinical intensity. It is caused by deficient activity of the glucose 6-phosphatase enzyme (GSD Ia) or a deficiency in the microsomal transport proteins for ...
Beyzaei Z, Geramizadeh B.
europepmc +5 more sources
Glycogen Storage Disease Type I With Hypercalcemia in an Infant: A Case Report. [PDF]
Cureus, 2023 Glycogen storage disease type I (GSDI) is an uncommon condition resulting from a deficiency or absence of glucose-6-phosphatase, a key enzyme in regulating blood glucose levels.
Elouali A +4 more
europepmc +2 more sources
Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I. [PDF]
J Inherit Metab Dis, 2022 The metabolic defect in glycogen storage disease type I (GSDI) results in fasting hypoglycemia and typical secondary metabolic abnormalities (eg, hypertriglyceridemia, hyperlactatemia, hyperuricemia).
Mathis T +6 more
europepmc +2 more sources
Nutrition Management in Children Less than 5 Years of Age with Glycogen Storage Disease Type I: Survey Results. [PDF]
NutrientsBackground: Nutrition management for GSD Type I (GSDI; OMIM #232200, 232220) is complex, with the goal being to maintain euglycemia while minimizing metabolic derangements. Management guidelines were published in 2002 and 2014.
Sowa M +4 more
europepmc +2 more sources