Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia

B. Wolf*, C. L. Freehauf, J. A. Thomas, P. L. Gordon, C. L. Greene, J. C. Ward

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

Abstract

We report two children who presented with symptoms suggestive of biotinidase deficiency. Rather than deficiency, markedly elevated serum biotinidase activities were found. Based upon literature reports of elevated biotinidase activities in children with glycogen storage disease (GSD) type Ia, we considered the latter in our differential diagnosis and subsequently confirmed GSD type Ia in both patients by enzymatic testing. GSD type Ia should be considered in children with markedly elevated serum biotinidase activity.

Original languageEnglish (US)
Pages (from-to)805-809
Number of pages5
JournalJournal of inherited metabolic disease
Volume26
Issue number8
DOIs
StatePublished - 2003

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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