title: 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: Division of Metabolism and Genetics, Children's Hospital of Philadelphia, PA, USA.
authors: C A
authors: CA
authors: Bay
authors: G T
authors: GT
authors: Berry
authors: T A
authors: TA
authors: Glauser
authors: J C
authors: JC
authors: Hayward
authors: B
authors: B
authors: Wolf
authors: J T
authors: JT
authors: Sladky
authors: P
authors: P
authors: Kaplan
mesh_terms: D000581:Amidohydrolases / Q000172:deficiency*; D043523:Biotinidase; D002675:Child, Preschool; D004576:Electromyography; D005260:Female; D006801:Humans; D009123:Muscle Hypotonia / Q000209:etiology*
chemical_list: D000581:Amidohydrolases; D043523:Biotinidase