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

C. A. Bay*, G. T. Berry, T. A. Glauser, J. C. Hayward, B. Wolf, J. T. Sladky, P. Kaplan

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

6 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)701-704
Number of pages4
JournalJournal of inherited metabolic disease
Volume18
Issue number6
DOIs
StatePublished - Nov 1995

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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