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

  • Published:
Journal of Inherited Metabolic Disease

Abstract

Summary: 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.

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Authors and Affiliations

  1. Department of Pediatrics, Connecticut Children's Medical Center and the University of Connecticut School of Medicine, Hartford, Connecticut

    B. Wolf

  2. Division of Research, Connecticut Children's Medical Center, 282 Washington St., Hartford, CT, 06106, USA

    B. Wolf

  3. Department of Pediatrics, Denver, Colorado, USA

    C. L. Freehauf & J. A. Thomas

  4. Cell and Gene Therapy, St Jude Children's Research Hospital, Memphis, Tennessee, USA

    P. L. Gordon

  5. Department of Pediatrics, Children's National Medical Center, Washington, DC, USA

    C. L. Greene

  6. Department of Pediatrics, University of Tennessee, Memphis, Tennessee, USA

    J. C. Ward

Authors
  1. B. Wolf
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  2. C. L. Freehauf
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  3. J. A. Thomas
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  4. P. L. Gordon
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  5. C. L. Greene
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  6. J. C. Ward
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Wolf, B., Freehauf, C.L., Thomas, J.A. et al. Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia. J Inherit Metab Dis 26, 805–809 (2003). https://doi.org/10.1023/B:BOLI.0000009949.65855.4c

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  • DOI: https://doi.org/10.1023/B:BOLI.0000009949.65855.4c

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