ALLMedicine™ Glycogen Storage Disease Center

May 14th, 2022 - Glycogen storage disease type Ib (GSD Ib) is a severe disorder of carbohydrate metabolism due to bi-allelic variants in SLC37A4. It is associated with neutropaenia and neutrophil dysfunction, which has recently been attributed to the accumulation ...

May 14th, 2022 - Avoidance of fasting and regular ingestion of uncooked-cornstarch have long been the mainstay dietary treatment of Glycogen Storage Disease type Ia (GSD-Ia). However, GSD-Ia patients who despite optimal dietary treatment show poor glycemic control...

May 14th, 2022 - Pathogenic mutations in the PHKG2 are associated with a very rare disease-glycogen storage disease IXc (GSD-IXc)-and are characterized by severe liver disease. Here, we report a patient with jaundice, hypoglycaemia, growth retardation, progressive...

May 4th, 2022 - This paper aims to report collective information on safety and efficacy of empagliflozin drug repurposing in individuals with glycogen storage disease type Ib (GSD Ib). This is an international retrospective questionnaire study on the safety and e...

May 2nd, 2022 - Practice Essentials A glycogen storage disease (GSD) is the result of an enzyme defect. These enzymes normally catalyze reactions that ultimately convert glycogen compounds to glucose. Enzyme deficiency results in glycogen accumulation in tissues....

Oct 31st, 2014 - Glycogen storage disease type I (GSD I) is a rare disease of variable clinical severity that primarily affects the liver and kidney. It is caused by deficient activity of the glucose 6-phosphatase enzyme (GSD Ia) or a deficiency in the microsomal ...

Jul 16th, 2010 - Glycogen storage disease type III is a rare disease of variable clinical severity affecting primarily the liver, heart, and skeletal muscle. It is caused by deficient activity of glycogen debranching enzyme, which is a key enzyme in glycogen degra...

Apr 28th, 2022 - This study is a phase 1/2 first-in-human (FIH), 2-part study to evaluate the safety, tolerability, and pharmacokinetic (PK) of a single ascending dose (SAD; part 1) and repeat doses (RD; part 2) of UX053 in patients with GSD III. Single SAD and RD...

Apr 18th, 2022 - Only participants who received DTX401 in study 401GSDIA01 (NCT03517085) are eligible to participate in study 401GSDIA02. No investigational product will be administered during study 401GSDIA02.

Dec 15th, 2021 - Prior to first study appointment: A medical record review will be done prior to the appointment to confirm the diagnosis of GSD I. For interested subjects who are not already known to the investigators (i.e., patients of the Duke University Medica...

Aug 16th, 2021 - Glycogen Storage Disease Type 1b (GSD1b) is an ultra-rare inborn error of carbohydrate metabolism, characterized by low neutrophil count, neutrophil dysfunction, and the associated recurrent infections and inflammatory bowel conditions. The curren...

Jun 23rd, 2021 - Symptoms of glycogen storage disease type Ib (GSD Ib) include - among others - hypoglycemia, hepatomegaly and neutropenia with concomitant neutrophil dysfunction, which results in recurrent bacterial and fungal infections, and inflammatory bowel d...

Aug 6th, 2021 - Glycogen storage disease type II, also called Pompe disease, is a rare, progressive, genetic condition in which there is an accumulation of glycogen, a source of energy for the body, inside the lysosomes of cells. This occurs due to mutations in t...

May 22nd, 2014 - VANCOUVER, B. C.

Abstract and Introduction Introduction Hepatocellular adenoma (HA) is a relatively uncommon benign liver neoplasm that is typically seen in obese women of childbearing age who are on long-term oral contraceptives.[1] It is also reported to occur i...