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

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.

• Authors: C A Bay, G T Berry, T A Glauser, J C Hayward, B Wolf, J T Sladky, P Kaplan
• Journal: Journal of inherited metabolic disease (J Inherit Metab Dis) Vol. 18 Issue 6 Pg. 701-4 ( 1995) ISSN: 0141-8955 [Print] United States
• PMID: 8750607 (Publication Type: Case Reports, Journal Article)

Chemical References

• Amidohydrolases
• Biotinidase

Topics

• Amidohydrolases (deficiency)
• Biotinidase
• Child, Preschool
• Electromyography
• Female
• Humans
• Muscle Hypotonia (etiology)