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8 Cards in this Set

  • Front
  • Back
Von Gierkes

type 1
(LIVER)

deficiency: glucose 6 phosphatase
(liver, kidney, intestine)

symptoms: hepatomegaly, acidosis, ketosis, HYPOGLYCEMIA, hypolipidemia
Pompes

type 2
(MUSCLE)

deficiency: lysosomal glucosidase (all organs)

symptoms: cardiomegaly, hepatomegaly, lysosome can't break glycogen; DEATH BY ONE YEAR OLD
Coris or Forbes

type 3
(LIVER)

deficiency:glycogen debranching enzyme (liver, heart muscle)

symptoms: hepatomegaly, partial degradation of glycogen, normal blood glucose and lipids
Andersen

type 4
(LIVER)

deficiency: glycogen branching enzyme (generalized)

symptoms: hepatomegaly, cirrhosis, liver failure
McArdle

type 5
(MUSCLE)

deficiency: muscle glycogen phosphorylase

symptoms: muscle weakness and cramping, normal lactate
Hers

type 6
(LIVER)

deficiency:liver glycogen phosphorylase

symptoms: hepatomegaly, less severe hypoglycemia than type 1, lipidemia or acidosis
Taruis

type 7
(MUSCLE)

deficiency: muscle PFK1 (muscle and erythrocytes

symptoms: muscle weakness and cramping during exercise
type 0
deficiency: glycogen synthase

symptoms: no glycogenesis, hypoglycemia

LARGE FLUCTUATIONS (hyperglycemic after a huge meal, hypoglycemia while fasting)