Podcast
Questions and Answers
What is the primary cause of glycogen storage diseases (GSD)?
What is the primary cause of glycogen storage diseases (GSD)?
What distinguishes genetic GSD from environmental GSD?
What distinguishes genetic GSD from environmental GSD?
Why were Fanconi-Bickel syndrome and Danon disease declassified as GSDs?
Why were Fanconi-Bickel syndrome and Danon disease declassified as GSDs?
What is an example of a genetic GSD that affects muscles and has not been assigned a GSD number?
What is an example of a genetic GSD that affects muscles and has not been assigned a GSD number?
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What causes environmental GSD in livestock?
What causes environmental GSD in livestock?
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Study Notes
Causes of Glycogen Storage Diseases (GSD)
- The primary cause of glycogen storage diseases (GSD) is the deficiency of enzymes involved in glycogen synthesis or breakdown.
Classification of GSD
- Genetic GSD is distinguished from environmental GSD by the presence of inherited mutations that affect glycogen metabolism.
- Genetic GSD is caused by genetic defects, whereas environmental GSD is caused by external factors.
Reclassification of GSDs
- Fanconi-Bickel syndrome and Danon disease were declassified as GSDs due to their distinct clinical and biochemical features that do not fit the classical definition of GSD.
Examples of Genetic GSD
- McArdle disease is a genetic GSD that affects muscles and has not been assigned a GSD number; it is caused by the deficiency of myophosphorylase, an enzyme involved in glycogen breakdown.
Environmental GSD in Livestock
- Environmental GSD in livestock is often caused by feeding practices, such as overfeeding or underfeeding, which disrupt glycogen metabolism.
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Description
Test your knowledge of glycogen storage diseases with this quiz. Explore the genetic and environmental causes, enzyme deficiencies, and the impact on glycogen and glucose metabolism in liver and muscle cells.