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

J Inherit Metab Dis. 1995;18(6):701-4. doi: 10.1007/BF02436759.

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 findings of hypotonia.

Publication types

  • Case Reports

MeSH terms

  • Amidohydrolases / deficiency*
  • Biotinidase
  • Child, Preschool
  • Electromyography
  • Female
  • Humans
  • Muscle Hypotonia / etiology*

Substances

  • Amidohydrolases
  • Biotinidase