Hepatic glycogenosis due to phosphorylase deficiency. Limitations of enzyme studies on liver biopsy specimens

Richard Wagner, Frans Huijing, Edith Porter

Research output: Contribution to journalArticle

3 Scopus citations

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 languageEnglish (US)
Pages (from-to)685-691
Number of pages7
JournalThe American journal of medicine
Volume51
Issue number5
DOIs
StatePublished - Nov 1971

ASJC Scopus subject areas

  • Medicine(all)

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