Learn About Glycogen Storage Disease Type 7

What is the definition of Glycogen Storage Disease Type 7?
Glycogen storage disease type 7 (GSD7) is an inherited condition in which the body is unable to break down glycogen (a complex sugar) in the muscle cells. Because glycogen is an important source of energy, this can interfere with the normal functioning of muscle cells. The severity of the condition and the associated signs and symptoms vary, but may include muscle weakness and stiffness; painful muscle cramps; nausea and vomiting; and/or myoglobinuria (the presence of myoglobin in the urine) following moderate to strenuous exercise. Those who develop the condition during infancy may experience additional symptoms such as hypotonia (poor muscle tone), cardiomyopathy, and breathing difficulties. This condition is caused by changes in the PFKM gene and is inherited in an autosomal recessive manner.
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What are the alternative names for Glycogen Storage Disease Type 7?
  • Glycogen storage disease type 7
  • GSD7
  • Muscle phosphofructokinase deficiency
  • PFKM deficiency
  • Tarui disease
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What are the latest Glycogen Storage Disease Type 7 Clinical Trials?
Biomarker for Glycogen Storage Diseases - AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL

Summary: Development of a new MS-based biomarker for the early and sensitive diagnosis of Glycogen Storage Diseases from plasma. Testing for clinical robustness, specificity and long-term stability of the biomarker.

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Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Glycogen Storage Disease Type 7?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.