[Utility of enzyme replacement therapy in Fabry disease].
OBJECTIVE
The lysosomal deposit of sphingolipids secondary to alpha-galactosidase-A deficiency causes Fabry disease. The deposit in the endothelial cells of the vasa nervorum and the small caliber axons, among other structures, results in the characteristic painful neuropathy. It is our objective to present the findings of the neuropathy evaluation before and after 18 months of agalsidase beta enzyme replacement therapy.


METHODS
A neurological exam, a neurophysiological study measuring sensory and motor conduction velocities and amplitudes and a quantitative sensory testing were performed on 5 patients with confirmed Fabry disease; quantification on pain measurement scales was also done.


RESULTS
Prior to treatment, no anomalies were found in the conduction velocities or the compound muscular action potential amplitudes; the quantitative sensory test was abnormal in all patients. After treatment, improvement was seen in the pain scales and the quantitative sensory test.


CONCLUSIONS
Enzyme replacement therapy with agalsidase beta demonstrated subjective and objective benefits related to the painful neuropathy of Fabry disease.
Politei
Juan Manuel
JM
Sección de Enfermedades Neuromusculares, Departamento de Neurología, Instituto de Neurociencias de la Fundación Favaloro, Hospital Juan Fernández, Buenos Aires, Argentina. jpolitei@hotmail.com
Dubrovsky
Alberto
A
D000293:Adolescent; D000328:Adult; D056947:Enzyme Replacement Therapy; D000795:Fabry Disease / Q000188:drug therapy*; D005260:Female; D006801:Humans; D007527:Isoenzymes / Q000627:therapeutic use*; D008297:Male; D055815:Young Adult; D000519:alpha-Galactosidase / Q000627:therapeutic use*
D007527:Isoenzymes; D000519:alpha-Galactosidase; C459420:agalsidase beta