| Autor: |
de Waal A, Röhm GF, Hoek BB, Potgieter GM, Oosthuysen WT |
| Jazyk: |
angličtina |
| Zdroj: |
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde [S Afr Med J] 1984 Jan 07; Vol. 65 (1), pp. 23-5. |
| Abstrakt: |
A 5-year-old Black boy presented with massive hepatomegaly and muscle weakness. Liver biopsy revealed the presence of glycogen pools in the cytoplasm and nuclei of hepatocytes. Erythrocyte glycogen levels, identified as limit dextrin, were grossly increased. The galactose tolerance test as well as the two-stage glucagon stimulation test suggested a decrease in activity of both amylo-1,6-glucosidase and glucose-6-phosphatase enzymes. This was confirmed by direct assays performed on liver tissue and erythrocytes. The decrease in glucose-6-phosphatase activity was attributed to a secondary effect of limit dextrin. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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