Reversible metabolic myopathy in biotinidase deficiency: its possible role in causing hypotonia |
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| Authors: | C. A. Bay G. T. Berry T. A. Glauser J. C. Hayward B. Wolf J. T. Sladky P. Kaplan |
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| Affiliation: | (1) Division of Metabolism and Genetics, Children's Hospital of Philadelphia, Pennsylvania;(2) Division of Neurology, Children's Hospital of Philadelphia, Pennsylvania;(3) Division of Child Development, Children's Hospital of Philadelphia, Pennsylvania;(4) Department of Human Genetics and Pediatrics, Medical College of Virginia./Virginia Commonwealth University, Richmond, Virginia, USA;(5) Division of Genetics, Tod Children's Hospital, 500 Gypsy Lane, 44501 Youngstown, OH, USA |
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| Abstract: | ![]()
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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