Question
| A. | Andersen disease |
| B. |
Gaucher disease |
| C. |
Krabbe disease |
| D. |
Sandhoff disease |
|
Correct Answer » A Explanation |
 |
Glycogen storage diseases (GSDs) are a group of inherited metabolic disorders characterized by deficiencies in specific enzymes involved in glycogen metabolism, leading to abnormal glycogen accumulation in various tissues.
Andersen disease, also known as GSD Type IV (Amylopectinosis), is caused by a deficiency in the glycogen branching enzyme, leading to the accumulation of glycogen with fewer branch points, resembling amylopectin.
A. Andersen disease – This is a type of glycogen storage disease (GSD Type IV), characterized by failure to thrive, hepatomegaly, and progressive liver cirrhosis, often leading to death by 5 years of age.
Reason to Rule Out Other Options:
B. Gaucher disease – A lysosomal storage disorder caused by glucocerebrosidase deficiency, not a glycogen storage disease.
C. Krabbe disease – A lysosomal storage disorder caused by galactocerebrosidase deficiency, leading to progressive leukodystrophy, not related to glycogen metabolism.
D. Sandhoff disease – Another lysosomal storage disorder caused by hexosaminidase A and B deficiency, leading to GM2 ganglioside accumulation, unrelated to glycogen storage disorders.
