10/7 Glycogen Disorders

Question 1

other name for, and enzyme deficiency in, Von Gierke’s

Answer 1

Type 1

G16-phosphotase

Question 2

other name for, and enzyme deficiency in, McArdle’s

Answer 2

Type 5

myophosphorylase

Question 3

organs affected by Von Gierke’s, symptoms, lab values

Answer 3

primarily liver, some kidney

symptoms: hepatomegaly, hepatic adenomas, doll-like face, protuberant abdomen, short stature, late stage: xanthomas and gout
labs: high lipids, high uric acid, low WBCs, low CO2, v low fasting glucose

Question 4

organs affected by McArdle’s, symptoms, lab values

Answer 4

muscle

symptoms: exercise-related, cramps and fatigue, rhabdomyolysis, myoglobinuria, second wind phenomenon, late stage: renal disease
labs: high CPK, low lactate

Question 5

presentation of Type II

Answer 5

Pompe

normal fasting glucose, muscle weakness, cardiac hypertrophy, cardiomyopathy

early onset: fatal
late onset: pelvic and pectoral girdle weakness

Question 6

presentation of Type III

Answer 6

Forbes (debranching deficiency)

“less severe version of Type 1/Von Gierke’s”

elevated glycogen in the liver/skel m/heart, hepatomegaly, hepatic fibrosis/cirrhosis, hepatic adenomas, hypoglycemia, variable m hypertrophy and cardiomyopathy