ALLMedicine™ Glycogen Storage Diseases Center

Dec 30th, 2022 - Congenital disorder of glycosylation (CDG) and Glycogen storage diseases (GSDs) are inborn metabolic disorders caused by defects in some metabolic pathways. These disorders are a heterogeneous group of diseases caused by impaired O- as well as N-g...

Dec 21st, 2022 - Metabolic myopathies are disorders that affect skeletal muscle substrate oxidation. Although some drugs and hormones can affect metabolism in skeletal muscle, this review will focus on the genetic metabolic myopathies. Impairments in glycogenolysi...

Dec 4th, 2022 - Hepatic Glycogen Storage Diseases (GSD) are rare genetic disorders in which the gluconeogenesis pathway is impaired. Cytokines control virtually every aspect of physiology and may help to elucidate some unsolved questions about phenotypes presente...

Dec 1st, 2022 - Background Glycogen storage disease type I Glycogen storage disease (GSD) type I, also known as von Gierke disease, is a group of inherited autosomal recessive metabolic disorders of the glucose-6- phosphatase system which helps maintain glucose h...

Dec 1st, 2022 - Background Glycogen storage disease type I Glycogen storage disease (GSD) type I, also known as von Gierke disease, is a group of inherited autosomal recessive metabolic disorders of the glucose-6- phosphatase system which helps maintain glucose h...

Oct 31st, 2022 - The project will use carbon-13 magnetic resonance spectroscopy to assess whether high glycogen levels in skeletal muscle of patients with Glycogen Storage Diseases is a prelude for muscle damage. Patients with Glycogen Storage Diseases will be exa...

Jun 6th, 2022 - Pompe disease (PD) is a rare, autosomal-recessive disorder caused by deficiency of the lysosomal acid alpha-glucosidase enzyme (GAA), leading to generalized build-up of glycogen, especially in the heart, muscle, liver and nervous system. Among the...

May 13th, 2021 - Glycogen storage diseases (GSDs) are a group of inherited genetic disorders that cause glycogen to be improperly stored in the body. People with glycogen storage diseases have a buildup of abnormal amounts or types of glycogen in their tissues. Th...

Feb 17th, 2020 - A randomize and crossover study will be conducted on two consecutive days, comparing the use of classic cornstarch to the use of sweet polvilho in patients with Glycogen Storage Disease type Ia. Ten patients diagnosed with Glycogen Storage Disease...

May 2nd, 2019 - Rationale Cytogenetic abnormalities are present in nearly 1% of live births, in approximately 2% of pregnancies in women older than 35 years who undergo prenatal diagnosis, and in fully half of all spontaneous, first-trimester abortions. Genetic c...

Aug 18th, 2022 - The Skill Checkup series provides a quick, case-style interactive quiz, highlighting key guideline- and evidence-based information to inform clinical practice. A 68-year-old Black man in Europe was admitted to the hospital for acute decompensated ...