Glycogen storage diseases include all the following except:
A. Von Gierke’s diseaseB. Fabry’s disease
C. Mc Ardle’s disease
D. Fragile syndrome
E. Krabbe’ s disease
The Answer
is. (B) Fabry’s disease ; (D) Fragile syndrome; (E) Krabbe’s disease :
• Fabry’s disease and Krabbe’s disease are sphingolipidoses
• Fragile X-syndrome is caused by abnormal expansion
of trinucleotide repeats (CGG/CCG expansion lead to fragile site on
chromosomes)
• Von Gierke’s
disease - deficiency of Glucose ‘6-phosphatase
• McArdle’s
disease - Muscle phosphorylase deficiency
Note: * Fabry’s
disease - dificiency of α-Galactosidase
* Farber’s
disease - deficiency of ceramidase
* Forbes disease
- Absence of debranching enzyme
