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