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
mnemonic for glycogen storage diseases
Very Poor Carbohydrate Affects Muscle and Hepatic Targets
most severe of all glycogen storage diseases and is the only lysosomal glycogen storage disease
Type II Pompe’s
caused by deficiency in glycogen synthase
Type 0
sx’s:
muscle pain
hypoglycemia
improve when sugar is eaten
can be mild and go unnoticed for years
Type 0
