Glycogen Metabolism Diseases

Question 1

Type I: von Gierke

enzyme; clinical features; resulting glycogen structure / histological picture

Answer 1

liver glucose-6-phosphatase; SEVERE hypoglycemia, lactic acidosis, hepatomegaly, hyperlipidemia, hyperuricemia, short stature, doll face, protruding abdomen + skinny limbs; NORMAL glycogen structure

Question 2

Type II: Pompe

enzyme, clinical features, resulting glycogen structure / microscopic picture

Answer 2

lysosomal alpha-1,4-glucosidase; infants, cardiomegaly, weakness, DEATH by yr 2; glycogen-like material in INCLUSION BODIES

Question 3

Type III: Cori

Answer 3

DEbranching enzyme; MILD hypoglycemia, hepatomegaly; SHORT outer branches / single glucose residue on outer branch

Question 4

Type IV: Andersen

Answer 4

branching enzyme; infantile hypotonia, cirrhosis, DEATH by 2 yrs; FEW branches, especially peripherally

Question 5

Type V: McArdle

Answer 5

muscle phosphorylase; cramps + weakness on exercise, myoglobinuria; NORMAL structure

Question 6

Type VI: Hers

Answer 6

hepatic phosphorylase; MILD fasting hypoglycemia, hepatomegaly, cirrhosis; NORMAL structure