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Type Name Enzyme Deficiency Clinical features
0 Glycogen synthase Hypoglycemia; hyperketonemia; early death
I Von Gierek’s disease Glucose 6-phosphatase Glycogen accumulation in liver and renal tubule cells; hypoglycemia; lactic acidemia; ketosis; hyperlipidemia
II Pompe’s disease Lysosomal α1->4 and

α 1->6 Glucosidase (acid maltase)

Accumulation of glycogen in lysosomes: juvenile onset  variant, muscle hypotonia, death from heart failure by age 2; adult onset variant, muscle dystrophy
III Limit dextrinosis, Forbe’s or Cori’s disease Debranching enzyme Fasting hypoglycemia; hepatomegaly in infancy; accumulation of characteristic branched polysaccharide 
IV Amylopectinosis, Andersen’s disease Branching enzyme Hepatosplenomegaly; accumulation of polysaccharide with few branch points; death from heart or liver failure in first year of life
V Myo phosphorylase deficiency, McArdle’s syndrome Muscle phosphorylase Poor exercise tolerance; muscle glycogen abnormally high (2.5–4%); blood lactate very low after exercise
VI Hers’ disease  Liver phosphorylase Hepatomegaly; accumulation of glycogen in liver; mild hypoglycemia; generally good prognosis
VII Tarui’s disease Muscle and erythrocyte Phospho fructokinase 1 Poor exercise tolerance; muscle glycogen abnormally high (2.5–4%); blood lactate very low after exercise; also haemolytic anemia
VIII Liver phosphorylase kinase Hepatomegaly; accumulation of glycogen in liver; mild hypoglycemia; generally good prognosis.
IX Liver and muscle phosphorylase kinase Hepatomegaly; accumulation of glycogen in liver and muscle; mild hypoglycemia; generally good prognosis
X cAMP-dependent protein kinase A Hepatomegaly; accumulation of glycogen in liver

 

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