Genetic Storage Diseases I Flashcards Preview

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Flashcards in Genetic Storage Diseases I Deck (7)
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1
Q

What are the genetic basis for all glycogen storage diseases?

A

These are all autosomal recessive except for GSD VI (Liver phosphorylase X-Linked)

2
Q

Type I Glycogen Storage Disease AKA Von Gierkes disease is a defect in what enzyme and the build up of what precursor?

A

Defect in the hepatic Glucose-6-phosphatase or glucose 6-phosphate translocase.

Causes an accumulation of glucose within the liver and kidney. Presents with hypoglycemia and hepatomegaly.

3
Q

Type III Glycogen storage disease (Cori Disease) is a defect in what enzyme and the build up of what precursor?

A

Deficiency of debranching enzyme *Cannot break down glycogen.
Presents with hepatomegaly and hypoglycemia, short stature, and myopathy.

4
Q

Type V Glycogen storage disease “McArdle Disease” is caused by a defect in what enzyme and the build up of what precursor?

A

Lack of muscle phosphorylase limiting ATP generation and resulting in glycogen accumulation.

Presents with exercise intolerance with muscle cramps etc.

5
Q

Diagnosis of McArdle Disease can be done by what blood products?

A

Serum creatine kinase and failure to produce lactate with elevated glycogen and reduced phosphorylase activity.

6
Q

Type II Glycogen storage disease “Pompes Disease” is caused by a deficiency in what enzyme and a build up of what precursors?

A

Deficiency of Acid-Alpha-1,4 glucosidase (Acid maltase) causing an accumulation of glycogen in the heart, muscle, liver, and CNS.

7
Q

What are the symptoms of pompes disease?

A

Cardiomegally!!!!

Hypotonia, death prior to 2 years