Podcast
Questions and Answers
Which group of muscle glycogen storage disorders is characterized by exercise intolerance, myalgia, cramps, rhabdomyolysis, and myoglobinuria?
Which group of muscle glycogen storage disorders is characterized by exercise intolerance, myalgia, cramps, rhabdomyolysis, and myoglobinuria?
- GSD IX (correct)
- GSD III
- GSD X
- GSD XIII
What is the main clinical presentation of Pompe's disease?
What is the main clinical presentation of Pompe's disease?
- Deficiency of glycogen debrancher enzyme activity
- Hypertonia and brisk reflexes
- Atypical glycogen accumulation in the liver
- Generalized myopathy and cardiomyopathy (correct)
Which form of generalized glycogenoses can be treated with enzyme replacement therapy?
Which form of generalized glycogenoses can be treated with enzyme replacement therapy?
- GSD II (correct)
- Danon disease
- Lafora disease
- GSD XI
Which gene is involved in causing Pompe's disease?
Which gene is involved in causing Pompe's disease?
What is the specific deficiency seen in GSD Ia (Von Gierke Disease)?
What is the specific deficiency seen in GSD Ia (Von Gierke Disease)?
What is the primary treatment option for Pompe's disease?
What is the primary treatment option for Pompe's disease?
Which liver glycogen storage disorder is associated with a deficiency in the endoplasmic reticulum (ER) glucose-6-phosphate (G6P) translocase?
Which liver glycogen storage disorder is associated with a deficiency in the endoplasmic reticulum (ER) glucose-6-phosphate (G6P) translocase?
In which cells does atypical glycogen accumulate in GSD III (Cori disease)?
In which cells does atypical glycogen accumulate in GSD III (Cori disease)?
Which muscle glycogen storage disorder manifests as a sub-acute or chronic myopathy with weakness of trunk, limb, and respiratory muscles?
Which muscle glycogen storage disorder manifests as a sub-acute or chronic myopathy with weakness of trunk, limb, and respiratory muscles?
What is the enzyme deficiency observed in GSD III (Cori disease)?
What is the enzyme deficiency observed in GSD III (Cori disease)?
What is the suggested underlying cause of Lafora disease, a glycogenosis affecting the liver?
What is the suggested underlying cause of Lafora disease, a glycogenosis affecting the liver?
What is the primary role of G6PD in red blood cells?
What is the primary role of G6PD in red blood cells?
Which of the following is NOT a precipitating factor for hemolytic anemia in individuals with G6PD deficiency?
Which of the following is NOT a precipitating factor for hemolytic anemia in individuals with G6PD deficiency?
What is the primary consequence of a decrease in reduced glutathione levels in G6PD deficiency?
What is the primary consequence of a decrease in reduced glutathione levels in G6PD deficiency?
Which of the following statements about favism is correct?
Which of the following statements about favism is correct?
What is the primary mechanism by which infections can precipitate hemolytic anemia in individuals with G6PD deficiency?
What is the primary mechanism by which infections can precipitate hemolytic anemia in individuals with G6PD deficiency?
Which of the following statements about essential pentosuria is correct?
Which of the following statements about essential pentosuria is correct?
