Glycogen Storage Disorders Flashcards
0
Q
GSD-2: Pompe disease
A
Lysosomal alpha-glucosidase deficiency
Myopathy, cardiomyopathy, hepatomegaly
ERT now available
1
Q
GSD-1a: von Gierke disease
A
Glucose-6-phosphatase deficiency
Hypoglycemia, hepatomegaly poor growth, lactic acidosis
2
Q
GSD-3: Cori disease
A
Debrancher deficiency
Cirrhosis, ketosis, myopathy, CMP, mild la
3
Q
GSD-5: McArdle disease
A
Muscle phosphorylase deficiency
Weakness, cramps, myoglobinuria, atrophy
