About 1,125 results

ALLMedicine™ Glycogen Storage Disease Center

Research & Reviews  422 results

The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen ...
BMC Pediatrics; Wang J, Yu Y et. al.

May 17th, 2022 - Glycogen storage disease type III (GSD III) is a rare autosomal recessive glycogenolysis disorder due to AGL gene variants, characterized by hepatomegaly, fasting hypoglycemia, hyperlipidemia, elevated hepatic transaminases, growth retardation, pr...

A very rare case report of glycogen storage disease type IXc with novel PHKG2 variants.
BMC Pediatrics; Shao Y, Li T et. al.

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...

Understanding the role of SGLT2 inhibitors in glycogen storage disease type Ib: the exp...
Orphanet Journal of Rare Diseases; Halligan RK, Dalton RN et. al.

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 ...

Glycogen Storage Disease type IA refractory to cornstarch: Can next generation sequenci...
European Journal of Medical Genetics; Steg Saban O, Pode-Shakked B et. al.

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...

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Guidelines  2 results

Diagnosis and management of glycogen storage disease type I: a practice guideline of th...
Genetics in Medicine : Official Journal of the American C... Kishnani PS, Austin SL et. al.

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 ...

Glycogen storage disease type III diagnosis and management guidelines.
Genetics in Medicine : Official Journal of the American C... Kishnani PS, Austin SL et. al.

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...

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Clinicaltrials.gov  20 results

Endogenous Glucose Production in Patients With Glycogen Storage Disease Type Ia

Feb 11th, 2022 - Study design: An investigator-initiated human pilot-study. Study population: Ten adult subjects with GSDIa and ten age and gender-matched healthy subjects. Interventions: Three experiments will be performed for each subject. During the first in ho...

Anaplerotic Therapy Using Triheptanoin for Patients With Glycogen Storage Disease Type I

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...

Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism

Dec 10th, 2021 - This study will treat children and adults who have documented deficiencies of mitochondrial fatty acid oxidation including disorders of the following enzymes: Carnitine-Acylcarnitine Translocase (CATR), Carnitine Palmitoyltransferase I and II (CPT...

Safety and Dose-Finding Study of DTX401 (AAV8G6PC) in Adults With Glycogen Storage Disease Type Ia (GSDIa)

Nov 23rd, 2021 - Subjects enrolled in the 401GSDIA01 study will be monitored for 52 weeks following DTX401 administration. Subjects in Cohorts 1, 2, and 3 will receive reactive oral steroid treatment for possible vector-induced hepatitis following treatment with D...

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News  4 results

Fast Five Quiz: Glycogen Storage Disease Type II (Pompe Disease)

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...

Update: Radiologic-Pathologic Correlation of Hepatocellular Adenoma

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...

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Patient Education  2 results see all →