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  2. 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.

  3. Glycogen storage disease type IV - Wikipedia

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

    Alternative names in medical literature for the disease include: [citation needed] Andersen's triad; Glycogenosis type IV; Glycogen branching enzyme deficiency; Polyglucosan body disease; Amylopectinosis; Mutations in GBE1 can also cause a milder disease in adults that is called adult polyglucosan body disease. [8]

  4. 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.

  5. 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.

  6. Adult polyglucosan body disease - Wikipedia

    en.wikipedia.org/.../Adult_polyglucosan_body_disease

    Adult polyglucosan body disease is a condition that affects the nervous system. People with this condition have problems walking due to reduced sensation in their legs ( peripheral neuropathy ) and progressive muscle weakness and stiffness ( spasticity ).

  7. 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.

  8. Danon disease - Wikipedia

    en.wikipedia.org/wiki/Danon_disease

    Danon disease (or glycogen storage disease Type IIb) is a metabolic disorder. [1] Danon disease is an X-linked lysosomal and glycogen storage disorder associated with hypertrophic cardiomyopathy , skeletal muscle weakness, and intellectual disability. [ 2 ]

  9. Glycogen storage disease type III - Wikipedia

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

    Glycogen storage disease type III; Other names: Cori Disease, Debrancher Deficiency, Forbes Disease [1] Micrograph of glycogen storage disease with histologic features consistent with Cori disease. Liver biopsy. H&E stain. Specialty: Endocrinology Symptoms: Hypotonia [2] Causes: AGL gene mutation [3] Diagnostic method: Biopsy, Elevated ...

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