Type IV glycogen storage disease: Branching enzyme deficiency in skin fibroblasts and possible heterozygote detection

R. Rodney Howell, Michael M. Kaback, Barbara I. Brown

Research output: Contribution to journalArticle

31 Scopus citations

Abstract

Fibroblasts have been developed from skin biopsies obtained from 3 children with type IV glycogen storage disease (amylopectinosis) and have been shown to be profoundly deficient in branching enzyme activity. Branching enzyme activity was reduced below control levels in both parents of one patient, supporting the previously suggested autosomal recessive inheritance. Fibroblasts cultured from normal amniotic fluid cells have branching activity similar to that of normal skin fibroblasts. Antenatal diagnosis of this uniformly fatal, untreatable disease should therefore be possible.

Original languageEnglish (US)
Pages (from-to)638-642
Number of pages5
JournalThe Journal of Pediatrics
Volume78
Issue number4
DOIs
StatePublished - Apr 1971
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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