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Old 08-08-2011
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I agree Infant with muscle hypotonia & cardiomegaly!

A 3 month old male has muscle hypotonia, feeding difficulties, hepatomegaly & severe cardiomegaly. Muscle biopsy shows polysaccharide accumulation within lysosomes. What enzyme is deficient in this patient?

A) Glucose-6-phosphatase
B) Glycogen phosphorylase
C) Acid alpha-glucosidase
D) Debrancher enzyme
E) Galactokinase
F) Pyruvate Kinase
G) Glucokinase

Last edited by Hope2Pass; 08-08-2011 at 02:25 PM.
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I'm thinking this is Pompe's, so C)
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for sure it is C...acid alpha glucosidase deficiency(acid maltase)
type 2 glycogen storage disease
only this is associated with cardiomegaly
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C.alpha glucosidase
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Correct Answer C) Acid Alpha-Glucocidase

The correct answer is C) Acid Alpha-Glucosidase also known as Acid Maltase.

Explanation -

This vignette describes a patient with Pompe's Disease or glycogen storage disease type II, which is caused by a deficiency of the lysosomal enzyme alpha 1,4-glucosidase (acid maltase). This disease does not present with hypoglycemia but with hepatomegaly and increased risk for cirrhosis. Pathology shows abnormal glycogen accumulation in the lysosomes since acid maltase breaks down small amounts of glycogen. Other symptoms of Pompe's Disease are cardiomegaly, macroglossia, hypotonia and mental retardation in its most severe form.
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