Maria Dolores Sanchez-Niño
1, Alberto Ortiz
2*1 Nefrologia, IdiPAZ, Madrid, Spain.
2 Nefrologia, IIS-Fundación Jiménez Díaz, Universidad Autónoma de Madrid and Fundación Renal Iñigo Alvarez de Toledo, Madrid, Spain.
*Corresponding Author: *Corresponding author: Prof.Alberto Ortiz,Unidad de Diálisis ,Fundación Jiménez Díaz.Avd. Reyes Católicos 2, 28040 Madrid, España. Fax: +34 915 442636., Email:
aortiz@fjd.es
Implication for health policy/practice/research/medical education:
Fabry disease is caused by a deficient activity of alpha-galactosidase A (α-GalA) due to mutations in the X chromosome GLA gene. The enzymatic defect causes intracellular accumulation of neutral glycosphingolipids, mainly globotriaosylceramide (GL-3), as well as increased circulating levels of globotriaosylsphingosine (Lyso-GL-3).
Please cite this paper as: Sánchez-Niño MD, Ortiz A. Is it or is it not a pathogenic mutation? Is it or is it not the podocyte? J Nephropathology. 2012; 1(3): 152-154. DOI: 10.5812/nephropathol.8110