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 +2 more sources
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 +3 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 +3 more sources
Hypercalcemia in glycogen storage disease type I patients of Turkish origin
The Turkish Journal of Pediatrics, 2012 Glycogen storage disease type I (GSD I) is an autosomal recessive disorder caused by defects in the glucose-6-phosphatase complex. Deficient activity in the glucose-6-phosphatase-a (G6Pase) catalytic unit characterizes GSD IA and defects in the ...
Ciğdem Seher Kasapkara +5 more
doaj +1 more source
Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group [PDF]
, 2021 Supplementary material is available online at https://www.sciencedirect.com/science/article/pii/S0960896621006878#sec0054 .Highlights: • Management of physical activity intolerance in GSD V and GSD VII is nuanced and impacts activities of daily living (
Løkken, N +17 more
core +2 more sources
Glycogen storage disease type I: clinical and laboratory profile
Jornal de Pediatria, 2014 OBJECTIVES: To characterize the clinical, laboratory, and anthropometric profile of a sample of Brazilian patients with glycogen storage disease type I managed at an outpatient referral clinic for inborn errors of metabolism.
Berenice L. Santos +7 more
doaj +5 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
ANTHROPOMETRIC AND DIETARY ASSESSMENT OF PATIENTS WITH GLYCOGENOSIS TYPE I
Revista Paulista de Pediatria, 2021 Objective: To perform anthropometric and dietary evaluation of patients with glycogenosis type Ia and Ib. Methods: This cross-sectional study is composed of a sample of 11 patients with glycogenosis divided into two subgroups according to the ...
Natália Bauab Jorge +2 more
doaj +2 more sources
Glycogen Storage Disease Type I: Prognostic Factors and Treatment [PDF]
, 2023 Glycogen storage disease type I (GSD I) is an inherited disorder that hinders the ability of the liver to effectively break down stored glycogen, leading to difficulties in maintaining appropriate blood sugar levels.
Teboho Alfred Moerane
core +3 more sources
Glycogen storage disease type I (GSD I) [PDF]
, 2012 Review on Glycogen storage disease type I (GSD I), with data on clinics, and the genes ...
Mollet, Boudjemline A +5 more
core +1 more source