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Old 07-28-2012
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Biochemistry Liver Disease, Muscle Weakness, Growth Retardation

A 2-year-old boy is diagnosed with cirrhosis of the liver disease and muscle weakness. He has also demonstrated retarded growth. His urine is negative for reducing substances. Which enzyme is most likely defective?

a) Galactose 1-phosphate uridyltransferase
b) Glucose-6-phosphatase
c) Glucosyl (4:6) transferase
d) Glycogen debranching enzyme
e) Muscle phosphorylase
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Old 07-28-2012
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As I remember it's Andersen disease.
Cirrhosis and muscle weakness.
It's a branching disease. But don't remember the enzyme. Certainly it's not b,d,e. not sure about a.
My bet will be for c. Glucosyl 4,6 transferase
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Old 07-28-2012
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Quote:
Originally Posted by koolkiller88 View Post
As I remember it's Andersen disease.
Cirrhosis and muscle weakness.
It's a branching disease. But don't remember the enzyme. Certainly it's not b,d,e. not sure about a.
My bet will be for c. Glucosyl 4,6 transferase
ur right...its C

Andersons--Branching enzyme def and Cori's disease--Debranching enzyme def........ABCD
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