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  2. Glycogen storage disease type I - Wikipedia

    en.wikipedia.org/wiki/Glycogen_storage_disease...

    Glycogen storage disease type I (GSD I) is an inherited disease that prevents the liver from properly breaking down stored glycogen, which is necessary to maintain adequate blood sugar levels. GSD I is divided into two main types, GSD Ia and GSD Ib, which differ in cause, presentation, and treatment.

  3. Glycogen storage disease - Wikipedia

    en.wikipedia.org/wiki/Glycogen_storage_disease

    A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by a deficiency of an enzyme or transport protein affecting glycogen synthesis, glycogen breakdown, or glucose breakdown, typically in muscles and/or liver cells.

  4. Glycogen storage disease type III - Wikipedia

    en.wikipedia.org/wiki/Glycogen_storage_disease...

    The highest incidence of glycogen storage disease type III is in the Faroe Islands where it occurs in 1 out of every 3,600 births, probably due to a founder effect. [ 6 ] There seem to be two mutations in exon 3 (c.17_18delAG) being one of them, which are linked to the subtype IIIb.

  5. Glycogen storage disease type IX - Wikipedia

    en.wikipedia.org/wiki/Glycogen_storage_disease...

    Glycogen storage disease type IX is a hereditary deficiency of glycogen phosphorylase kinase B that affects the liver and skeletal muscle tissue. It is inherited in an X-linked or autosomal recessive manner. [1]

  6. Inborn errors of carbohydrate metabolism - Wikipedia

    en.wikipedia.org/wiki/Inborn_errors_of...

    Danon disease (GSD 2b, Danon disease, lysosomal glycogen storage disease without acid maltase deficiency) Symptoms of both GSD types IIa and IIb are very similar due to a defect in lysosomes. However, in type IIb, some show abnormal glycogen accumulation, but not all. Classic infantile form (Pompe disease): Cardiomyopathy and muscular hypotonia.

  7. Glycogen storage disease type II - Wikipedia

    en.wikipedia.org/wiki/Glycogen_storage_disease...

    Glycogen storage disease type II has an autosomal recessive pattern of inheritance. Pompe disease has an autosomal recessive inheritance pattern. This means the defective gene is located on an autosome , and two faulty copies of the gene—one from each parent—are required to be born with the disorder.

  8. Glycogen storage disease type IV - Wikipedia

    en.wikipedia.org/wiki/Glycogen_storage_disease...

    Approximately 1 in 20,000 to 25,000 newborns have a glycogen storage disease. [4] Andersen's disease affects 1 in 800,000 individuals worldwide, with 3% of all GSDs being type IV. [ 5 ] The disease was described and studied first by Dorothy Hansine Andersen .

  9. Glycogen storage disease type 0 - Wikipedia

    en.wikipedia.org/wiki/Glycogen_storage_disease...

    Glycogen storage disease type 0 is a disease characterized by a deficiency in the glycogen synthase enzyme (GSY). Although glycogen synthase deficiency does not result in storage of extra glycogen in the liver, it is often classified as a glycogen storage disease because it is another defect of glycogen storage and can cause similar problems.