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14 Cards in this Set

  • Front
  • Back

Glycogen - Type 1

Von gierkes disease- glucose 6 phosphatase

Glycogen - Type 2

Pompes disease - lysosomal alpha 1,4 glucosidase (acid maltase)

Glycogen - Type 3

Coris disease (limit dextrainosis, Forbes disease) amylo alpha 1,6 glucosidase (debraching enzyme)

Glycogen - Type iv

Anderson disease (amylopectinosis)


Glucosyl 4-6 transferase (branching enzyme)

Glycogen - Type 5

Mcardles disease - muscle Glycogen phosphorylase

Glycogen - Type 6

Hers disease - liver Glycogen phosphorylase

Glycogen - Type 7

Tarui disease - phosphofructokinase

Hyperlipoproteinemias type 1

Chylomicrons - triacylglycerols - lipoprotein lipase def

Hyperlipoproteinemias type 2a

Ldl-cholesterol-ldl receptor def

Hyperlipoproteinemias Type 2b

Ldl and vldl - triacylglycerols and cholesterol - overpro of apo b

Hyperlipoproteinemias Type 3

Idl - triacylglycerols and cholesterol - abnormalities in apoE

Hyperlipoproteinemias Type 4

Vldl - triacylglycerols - overpro of tg

Hyperlipoproteinemias Type 5

Chylomicrons and Vldl - triacylglycerols

Sids and Jamaican vomiting sickness

Acyl coA dehydrogenase