Hepatic glycogenosis due to phosphorylase deficiency
| Autor: | Frans Huijing, Edith G. Porter, Richard F. Wagner |
|---|---|
| Rok vydání: | 1971 |
| Předmět: |
chemistry.chemical_classification
medicine.medical_specialty Phosphorylase kinase activity medicine.diagnostic_test business.industry General Medicine Phosphorylase activity medicine.disease Glycogen phosphorylase Enzyme Endocrinology chemistry Liver biopsy Internal medicine Liver enzyme medicine Glycogen storage disease business |
| Zdroj: | The American Journal of Medicine. 51:685-691 |
| ISSN: | 0002-9343 |
| DOI: | 10.1016/0002-9343(71)90295-6 |
| Popis: | Two boys (maternal cousins) with liver glycogen storage disease, type VI, were studied. In one the liver phosphorylase activity was low; in the other it was normal. However, leukocyte phosphorylase activity was low in the patient in whom liver phosphorylase activity was normal. Through the study of leukocyte enzymes we found that this patient has the sex-linked type of glycogen storage disease characterized by a low phosphorylase kinase activity. We conclude that in such cases the study of leukocyte enzymes provides more reliable results than that of liver enzymes. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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