Canine glycogen storage disease type II a biochemical study of an acid α-glucosidase-deficient Lapland dog
| Autor: | R.G. Slee, H.C. Walvoort, Johan F. Koster |
|---|---|
| Rok vydání: | 1982 |
| Předmět: |
medicine.medical_specialty
Biophysics Glycogen Storage Disease Type I Biology Biochemistry chemistry.chemical_compound Dogs Tongue Internal medicine Glycogen storage disease type II medicine Animals Glycogen storage disease Acid α glucosidase Dog Diseases Molecular Biology Incubation Cells Cultured chemistry.chemical_classification Glycogen Muscles Myocardium Skeletal muscle alpha-Glucosidases Fibroblasts medicine.disease Liver Glycogen Kinetics medicine.anatomical_structure Endocrinology chemistry Female Glycoprotein Glucosidases |
| Zdroj: | Biochimica et Biophysica Acta (BBA) - General Subjects. 715:63-69 |
| ISSN: | 0304-4165 |
| DOI: | 10.1016/0304-4165(82)90050-2 |
| Popis: | A biochemical study was performed in a Lapland dog suspected of glycogen storage disease type II (acid α-glucosidase deficiency, Pompe's disease). Glycogen content was substantially elevated in heart and skeletal muscle but not in the liver. Severly reduced activities of acid α-glucosidase (EC 3.2.1.20) were found in heart, skeletal muscle, liver and cultured tongue fibroblasts. The deficiency was located in the glycoprotein fraction, which supported its lysosomal origin. The electrophorogram showed after acid incubation that the affected dog was missing the activity band, while after neutral incubation the pattern was similar to control. The obtained biochemical data are compared with the known data of the human pathology. |
| Databáze: | OpenAIRE |
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