Glycogen Storage Diseases Flashcards
caused by deficiency in glucose-6-phosphatase
Type I- Von Gierke’s
sx’s:
severe hypoglycemia
hepatomegaly
lactic acidosis
doll-like facial appearance
Type I Von Gierke’s
caused by deficiency in alpha-acid glucosidase (lysosomal)
Type II Pompe’s
sx’s:
cardiomegaly
hypotonia
resp. distress
death
Type II Pompe’s
caused by deficiency in debranching enzyme
Type III Cori’s
sx’s:
hypoglycemia
weakness
hepatomegaly
cardiac issues
Type III Cori’s
caused by deficiency in branching enzyme
Type IV Anderson’s
sx’s:
cirrhosis
hepatomegaly
dilated cardiomyopathy
Type IV Anderson’s
caused by deficiency in muscle glycogen phosphorylase
Type V McArdle’s
sx’s:
exercise intolerance
muscle pain and cramping
2nd wind phenomenon (switches to gluconeogenesis)
myoglobinuria
Type V McArdle’s
caused by deficiency in hepatic glycogen phosphorylase
Type VI Hers’
sx’s:
hepatomegaly
growth retardation
hypoglycemia
Type VI Hers’
only glycogen storage disease that is not autosomal recessive, it is X-Linked recessive
Type VI Hers’
caused by deficiency in muscle phosphofructokinase (PFK1)
Type VII Tarui’s
sx’s:
hemolytic anemia
exercise intolerance
muscle pain and cramping
Type VII Tarui’s
