AIIMS PG Entrance May 2015 – MCQ 23 – Child with hepatomegaly
A child presented with growth retardation and muscle weakness. He was found to have hepatomegaly, hypoglycemia and accumulation of highly branched glycogen called limit dextrins. What is the probable diagnosis?
A. McArdle’s disease
B. Von Gierke’s disease
C. Cori’s disease
D. Anderson’s disease
Correct answer : C. Cori’s disease
Liver biopsy specimen in a case of Cori’s disease
- Cori’s disease (also known as glycogen storage disease type III, Forbes disease and limit dextrinosis) is an inborn error of metabolism characterised by deficiency in glycogen debranching enzyme.
- It is an autosomal recessive disorder.
- Highly branched glycogen chains – limit dextrins – are deposited in the liver, muscles and the heart.
- McArdle disease (glycogen storage disease type V) is caused by deficiency of muscle phosphorylase.
- Von Gierke’s disease (glycogen storage disease type I) is the most common type of glycogen storage disease. It is caused by deficiency of the enzyme glucose-6-phosphatase.
- Anderson’s disease (glycogen storage disease type IV /Amylopectinosis) occurs due to the deficiency of glycogen branching enzyme.
Image credits: Author : Nephron. Licensed under the Creative Commons Attribution-Share Alike 3.0 Unported license. http://en.wikipedia.org/wiki/File:Glycogen_storage_disease_in_liver_-_high_mag.jpg
