17 Questions
Which group of muscle glycogen storage disorders is characterized by exercise intolerance, myalgia, cramps, rhabdomyolysis, and myoglobinuria?
GSD IX
What is the main clinical presentation of Pompe's disease?
Generalized myopathy and cardiomyopathy
Which form of generalized glycogenoses can be treated with enzyme replacement therapy?
GSD II
Which gene is involved in causing Pompe's disease?
GAA gene
What is the specific deficiency seen in GSD Ia (Von Gierke Disease)?
Glucose-6-phosphatase (G6Pase)
What is the primary treatment option for Pompe's disease?
Enzyme replacement therapy (ERT)
Which liver glycogen storage disorder is associated with a deficiency in the endoplasmic reticulum (ER) glucose-6-phosphate (G6P) translocase?
GSD I
In which cells does atypical glycogen accumulate in GSD III (Cori disease)?
Liver, muscle, and heart cells
Which muscle glycogen storage disorder manifests as a sub-acute or chronic myopathy with weakness of trunk, limb, and respiratory muscles?
GSD III
What is the enzyme deficiency observed in GSD III (Cori disease)?
Glycogen debrancher enzyme deficiency
What is the suggested underlying cause of Lafora disease, a glycogenosis affecting the liver?
Abnormal glycogen synthesis
What is the primary role of G6PD in red blood cells?
Facilitating the detoxification of free radicals and peroxides
Which of the following is NOT a precipitating factor for hemolytic anemia in individuals with G6PD deficiency?
Supplementation with iron
What is the primary consequence of a decrease in reduced glutathione levels in G6PD deficiency?
Impaired detoxification of free radicals and peroxides
Which of the following statements about favism is correct?
It is the hemolytic effect of ingesting fava beans in individuals with G6PD deficiency
What is the primary mechanism by which infections can precipitate hemolytic anemia in individuals with G6PD deficiency?
Increased production of free radicals by macrophages
Which of the following statements about essential pentosuria is correct?
It is a benign condition with no clinical manifestations
Test your knowledge on the role of Glucose-6-phosphate dehydrogenase (G6PD) in red blood cell defects. Learn about how G6PD deficiency leads to decreased levels of reduced glutathione, hindered detoxification of free radicals, and oxidation of proteins causing anemia. Explore the precipitating factors like neonatal jaundice and fava beans.
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