Glycogen storage disease Flashcards
Ia
Synonyms: Von Gierke
Deficiency on : Glucose-6-phosphatase (liver damage)
Ib
Deficiency on: Glucose-6-phosphatase translocase (liver damage)
II
Synonyms: Pompe
Deficiency on : 1,4-Glucosidase
IIIa
Synonyms: Cori-Forbes
Deficiency on : De Brancher ( Liver and muscle damage)
IIIb
Deficiency on : De Brancher ( Liver damage)
IV
Synonyms: Andersen
Deficiency on : Brancher (liver damage)
V
Synonyms: Mc Ardle
Deficiency on : Muscle phosphorylase (Muscle damage)
VI
Synonyms: Hers
Deficiency on : Liver Phosphorylase (Liver damage)
VII
Synonyms: Tarui
Deficiency on : Phosphofructokinase (muscle damage)
VIII
Deficiency on : Adenyl kinase
IXa
Deficiency on : Phosphorylase kinase (liver damage)
IXb
Deficiency on : Phosphorylase (liver and muscle damage)
X
Deficiency on : Cyclic-AMP-dependent kinase
XI
Synonyms: Fanconi-Bickel
Deficiency on : Glucose transporter 2
0
Deficiency on : Glycogen Synthase