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Reversible metabolic myopathy in biotinidase deficiency: its possible role in causing hypotonia
Author(s) -
Bay C. A.,
Berry G. T.,
Glauser T. A.,
Hayward J. C.,
Wolf B.,
Sladky J. T.,
Kaplan P.
Publication year - 1995
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf02436759
Subject(s) - biotinidase deficiency , hypotonia , myopathy , medicine , metabolic disease , human genetics , endocrinology , pediatrics , biology , genetics , newborn screening , gene
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.