Glycogen Storage Diseases Flashcards by Tyler Rzucidlo

Q

What is Type 1?

A

Von Gierke

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Q

What enzyme is the issue in Type 1?

A

Glucose-6-phosphate

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Q

What organs are affected in Type 1?

A

Liver and Kidney

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Q

What are the clinical manifestations of Type 1?

A

Ketotic hypoglycemia and hepatomegaly

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Q

What do you diagnose Type 1?

A

DNA testing and liver biopsy

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Q

How do you treat type 1?

A

Cornstarch
Allopurinol
G-CSF

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Q

What enzyme is the issue in type 2?

A

Lysosomal Acid Maltase Deficiency

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Q

What is another name for type 2?

A

Pompe

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Q

How organs are affected in type 2?

A

All organs

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Q

What are the clinical manifestations in type 2?

A

Hypotonia: Floppy baby
hypertrophic cardiomyopathy

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Q

How is type 2 diagnosed?

A

Muscle or liver enzyme assay and DNA testing

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Q

How is type 2 treated?

A

Enzyme replacement

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Q

What is another name for Type 3?

A

Cori

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Q

What enzyme is the issue in type 3?

A

Debranching enzyme

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Q

What organs are affected in Type 3?

A

Muscle and liver

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Q

What are the clinical manifestations of type 3?

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A

Hepatomegaly and Hypoglycemia

Q

What is the diagnostic testing for type 3?

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A

Muscle or liver biopsy

Q

How do you treat Type 3?

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A

High-protein diet and Liver transplant

Q

What is another name for type IV?

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A

Andersen

Q

What enzyme is the issue in Type IV?

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A

Glycogen branching enzyme is deficiency

Q

What organs are affected in Type IV?

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A

Liver and spleen

Q

What are the clinical manifestations of type IV?

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A

Cirrhosis of the liver and liver failure by age 2

Q

What are the diagnostic options for type IV?

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A

Liver biopsy and DNA testing

Q

How do you treat Type IV?

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A

Liver transplant

What is another name for Type V?

McArdle

What enzyme is the issue in Type V?

Muscle Phosphorylase deficiency

What organ is affected in type V?

Muscle

What are the clinical manifestations of Type V?

fatigability and limited physical activity

What is the diagnostic testing for Type V?

Muscle enzyme assay and DNA testing

How do you treat Type V?

Sucrose prior to strenuous activity