Branching enzyme-deficiency glycogenosis: Studies in therapy

J. Fernandes, F. Huijing

Research output: Contribution to journalArticlepeer-review

36 Scopus citations

Abstract

The fifth case is reported of glycogen storage disease type IV, characterized by accumulation of an amylopectin-like glycogen and caused by a deficiency of branching enzyme. The abnormal glycogen and enzyme deficiency were demonstrated in leucocytes when the boy was 6 months old. A course of purified fungal oc-glucosidase administered intravenously resulted in a decrease in the glycogen content of the liver from 11 to 2%. The child died at 11 months with an infection.

Original languageEnglish (US)
Pages (from-to)347-352
Number of pages6
JournalArchives of Disease in Childhood
Volume43
Issue number229
DOIs
StatePublished - 1968
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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