📂 Diseases
glycogen storage disease II — Definition
Glikojen Depo Hastalığı Tip II / glycogen storage disease II
Glicogen Depot disease type II is a metabolic disease with autozomal resessive transition, which is characterized by the deficiency of lysozomal acid alpha-glucosidase enzyme in cells, especially in muscle tissue. The disease occurs in three clinical forms, including infantile, juvenile and adult starter; while infantile form cardiomegaly and muscle weakness is in the forefront, proximal muscle weakness that holds respiratory muscles in the adult form is pronounced. The diagnosis is subject to measurement of enzyme activity or GAA gene mutation analysis, recombinant acid alpha-glucosidase enzyme replacement therapy is used in treatment.
Frequently Asked Questions
❓ What is Glikojen Depo Hastalığı Tip II?
Glikojen Depo Hastalığı Tip II; glicogen Depot disease type II is a metabolic disease with autozomal resessive transition, which is characterized by the deficiency of lysozomal acid alpha-glucosidase enzyme in cells, especially in muscle tissue. The disease occurs in three clinical forms, including infantile, juvenile and adult starter; while infantile form cardiomegaly and muscle weakness is in the forefront, proximal muscle weakness that holds respiratory muscles in the adult form is pronounced. The diagnosis is subject to measurement of enzyme activity or GAA gene mutation analysis, recombinant acid alpha-glucosidase enzyme replacement therapy is used in treatment.
❓ What is glycogen storage disease II in Turkish?
The Turkish equivalent of "glycogen storage disease II" is Glikojen Depo Hastalığı Tip II.
❓ Which medical field is Glikojen Depo Hastalığı Tip II related to?
This term belongs to the Diseases category.