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The characteristics of acid 1,4‐α‐glucosidase in various human adult and fetal tissues
Author(s) -
ShinBühring Y. S.,
Unterreithmeier J.,
Wilsmann T.,
Schaub J.
Publication year - 1978
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/bf01805586
Subject(s) - enzyme , glycogen storage disease type ii , fetus , glycogen storage disease , human genetics , prenatal diagnosis , enzyme deficiency , disease , human disease , metabolic disease , biology , enzyme assay , biochemistry , glycogen , pregnancy , endocrinology , medicine , enzyme replacement therapy , genetics , gene
Deficiency of acid 1,4‐α‐glucosidase (EC 3.2.1.20) is associated with Pompe's disease (McKusick 23230), generalized glycogen storage disease type II. The deficiency of this enzyme has been demonstrated in various human tissues and cultivated cells from patients with Pompe's disease. Prenatal and postnatal diagnosis of this genetic disorder can be established by a simple procedure measuring the enzyme activity even with artificial substrates. However, there remain some questions concerning enzyme characteristics of α‐glucosidase in various human tissues and the changes occurring during development.