Type III glycogenosis: Atypical enzyme activities in blood cells in two siblings

Richard J. Deckelbaum, Alex Russell, Emanuel Shapira, Tirza Cohen, Galila Agam, Alisa Gutman

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4 Scopus citations

Abstract

Two siblings with the clinical features of glycogen storage disease are described. Glucagon tolerance tests revealed a nonsignificant rise in blood sugar above fasting levels, whereas intravenous administration of galactose resulted in a normal increase in blood glucose. Amyloglucosidase (debrancher enzyme) activity was absent in liver and muscle, as assayed by incorporation of U-14C glucose and by release of glucose from a phosphorylase limit dextrin. Incorporation of U-14C glucose, although reduced, occurred in leukocytes and was normal in erythrocytes. Transferase activity was present in muscle and liver but absent in leukocytes. Assay of enzyme activity in blood cells only, as a means of diagnosing type III glycogenosis, may be misleading.

Original languageEnglish
Pages (from-to)955-961
Number of pages7
JournalJournal of Pediatrics
Volume81
Issue number5
DOIs
StatePublished - 1 Jan 1972
Externally publishedYes

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