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Reversible metabolic myopathy in biotinidase deficiency: its possible role in causing hypotonia

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Journal of Inherited Metabolic Disease

Summary

A 5-year-old girl diagnosed with biotinidase deficiency at 9 months of age demonstrated limb and axial hypotonia which improved on biotin therapy. In this patient, electromyographic (EMG) studies prior to treatment were compatible with a mild myopathic process. Serial EMGs performed on biotin therapy demonstrated a gradual resolution of the myopathy. This is the first documented case of a reversible myopathy in a patient with biotinidase deficiency, which may contribute to the clinical finding of hypotonia.

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References

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Authors and Affiliations

  1. Division of Metabolism and Genetics, Children's Hospital of Philadelphia, Pennsylvania

    C. A. Bay, G. T. Berry & P. Kaplan

  2. Division of Neurology, Children's Hospital of Philadelphia, Pennsylvania

    T. A. Glauser & J. C. Hayward

  3. Division of Child Development, Children's Hospital of Philadelphia, Pennsylvania

    C. A. Bay

  4. Department of Human Genetics and Pediatrics, Medical College of Virginia./Virginia Commonwealth University, Richmond, Virginia, USA

    B. Wolf & J. T. Sladky

Authors
  1. C. A. Bay
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  2. G. T. Berry
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  3. T. A. Glauser
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  4. J. C. Hayward
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  5. B. Wolf
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  6. J. T. Sladky
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  7. P. Kaplan
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Bay, C.A., Berry, G.T., Glauser, T.A. et al. Reversible metabolic myopathy in biotinidase deficiency: its possible role in causing hypotonia. J Inherit Metab Dis 18, 701–704 (1995). https://doi.org/10.1007/BF02436759

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  • DOI: https://doi.org/10.1007/BF02436759

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