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Use of platelets, mononuclear and polymorphonuclear cells in the diagnosis of glycogen storage disease type VI
Author(s) -
Dahan N.,
Baussan C.,
Moatti N.,
Lemonnier A.
Publication year - 1988
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01800366
Subject(s) - glycogen phosphorylase , phosphorylase kinase , glycogen , glycogen storage disease , platelet , glycogen debranching enzyme , endocrinology , glycogen branching enzyme , medicine , glycogen synthase , biochemistry , chemistry , biology
Summary We determined glycogen concentration and phosphorylase ‘a+b’ and phosphorylase a activities in platelets, mononuclear and polymorphonuclear cells from control subjects and patients with phosphorylase kinase deficiency (glycogen storage disease IX) and liver phosphorylase deficiency (glycogen storage disease VI). Variations according to cellular type and to subjects' age (1–40 years) were established. Variable glycogen overloading was found in all our patients. Glycogen storage disease (GSD) VI was characterized by a diminished total phosphorylase activity with a low or normal a/(a+b) ratio of phosphorylase activity. GSD IX was characterized by a very low residual activity of phosphorylase a with an ‘a+b’ activity low or normal.