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type VI hepatic phosphorylase deficiency: an autosomal recessive disorder caused by deficiency of the liver isozyme of glycogen phosphorylase; it is characterized by hepatomegaly, mild to moderate hypoglycemia, and mild ketosis. Phosphorylase b kinase deficiency was previously included in this type by some authors.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
type VII muscle phosphofructokinase deficiency: an autosomal recessive disorder caused by deficiency of the muscle isozyme of 6-phosphofructokinase; it is characterized by muscle weakness and cramping after exercise. Activity of the erythrocyte isozyme is also decreased, causing increased hemolysis.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
type VIII phosphorylase b kinase deficiency.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
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