Podcast
Questions and Answers
What enzyme is deficient in von Gierke's disease?
What enzyme is deficient in von Gierke's disease?
- glucose-6-phosphatase (correct)
- muscle glycogen phosphorylase
- glycogen branching enzyme
- acid maltase
Which glycogen storage disease is associated with acid maltase deficiency?
Which glycogen storage disease is associated with acid maltase deficiency?
- Hers' disease
- Cori's disease
- Pompe's disease (correct)
- Andersen disease
In Cori's disease, which enzyme is lacking?
In Cori's disease, which enzyme is lacking?
- muscle phosphofructokinase
- liver glycogen phosphorylase
- glycogen debrancher (correct)
- muscle glycogen phosphorylase
Andersen disease is characterized by a deficiency in which enzyme?
Andersen disease is characterized by a deficiency in which enzyme?
Which glycogen storage disease is linked to deficiency of muscle phosphofructokinase?
Which glycogen storage disease is linked to deficiency of muscle phosphofructokinase?
Which glycogen storage disease is associated with liver glycogen phosphorylase deficiency?
Which glycogen storage disease is associated with liver glycogen phosphorylase deficiency?
Which enzyme deficiency is found in Pompe's disease?
Which enzyme deficiency is found in Pompe's disease?
What is the enzymatic deficiency in McArdle disease?
What is the enzymatic deficiency in McArdle disease?
Cori's disease results from a deficiency in which enzyme?
Cori's disease results from a deficiency in which enzyme?
Andersen disease is linked to a deficiency in which enzyme responsible for glycogen metabolism?
Andersen disease is linked to a deficiency in which enzyme responsible for glycogen metabolism?
Which of the following diseases is associated with a defect in the glycogen branching enzyme?
Which of the following diseases is associated with a defect in the glycogen branching enzyme?
What type of glycogen storage disease results from a deficiency in muscle glycogen phosphorylase?
What type of glycogen storage disease results from a deficiency in muscle glycogen phosphorylase?
Which glycogen storage disease is linked to a deficiency in acid maltase?
Which glycogen storage disease is linked to a deficiency in acid maltase?
In which glycogen storage disease does the deficiency of liver glycogen phosphorylase occur?
In which glycogen storage disease does the deficiency of liver glycogen phosphorylase occur?
Tarui's disease is caused by a deficiency in which enzyme?
Tarui's disease is caused by a deficiency in which enzyme?
Flashcards
von Gierke's disease
von Gierke's disease
A glycogen storage disease caused by a deficiency in glucose-6-phosphatase, leading to accumulation of glycogen in the liver and kidneys.
Pompe's disease
Pompe's disease
A glycogen storage disease caused by a deficiency in acid maltase, leading to accumulation of glycogen in lysosomes.
Cori's disease
Cori's disease
A glycogen storage disease caused by a deficiency in glycogen debrancher, leading to accumulation of abnormally structured glycogen.
Andersen disease
Andersen disease
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McArdle disease
McArdle disease
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Glycogen Storage Disease
Glycogen Storage Disease
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What enzyme is deficient in von Gierke's disease?
What enzyme is deficient in von Gierke's disease?
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What enzyme is deficient in Pompe's disease?
What enzyme is deficient in Pompe's disease?
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What enzyme is deficient in Cori's disease?
What enzyme is deficient in Cori's disease?
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What enzyme is deficient in McArdle disease?
What enzyme is deficient in McArdle disease?
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Study Notes
Glycogen Storage Diseases
- Glycogen storage diseases are a group of inherited metabolic disorders
- These diseases involve deficiencies in enzymes responsible for glycogen metabolism
- Deficiencies in these enzymes lead to the accumulation of glycogen in various tissues
- This accumulation causes a range of symptoms and complications depending on the specific enzyme deficiency.
Types of Glycogen Storage Diseases
- Type I (von Gierke's disease): Deficiency in glucose-6-phosphatase
- Type II (Pompe's disease): Deficiency in acid maltase
- Type III (Cori's disease): Deficiency in glycogen debranching enzyme
- Type IV (Andersen's disease): Deficiency in glycogen branching enzyme
- Type V (McArdle's disease): Deficiency in muscle glycogen phosphorylase
- Type VI (Hers' disease): Deficiency in liver glycogen phosphorylase
- Type VII (Tarui's disease): Deficiency in muscle phosphofructokinase
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Description
This quiz covers glycogen storage diseases, a group of inherited metabolic disorders caused by enzyme deficiencies in glycogen metabolism. Each type of disease leads to specific symptoms based on the enzyme affected. Test your knowledge on the various types and their implications.
