Abstract
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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 685-691 |
| Number of pages | 7 |
| Journal | The American journal of medicine |
| Volume | 51 |
| Issue number | 5 |
| DOIs | |
| State | Published - Nov 1971 |
ASJC Scopus subject areas
- Medicine(all)
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Wagner, R., Huijing, F., & Porter, E. (1971). Hepatic glycogenosis due to phosphorylase deficiency. Limitations of enzyme studies on liver biopsy specimens. The American journal of medicine, 51(5), 685-691. https://doi.org/10.1016/0002-9343(71)90295-6