Fabry disease is a rare, inherited disease with lack of the enzyme alpha-galactosidase A (α-Gal)  in the cells of the body that participates in the breakdown of fat. The disease begins in early childhood, progresses slowly throughout life and results in severe damage of the kidneys, heart and central nervous system. The disease is life-threatening and if left untreated, death ...

  Anderson-Fabry disease is a rare inherited X-linked lysosomal storage disease caused by deficiency of the enzyme alpha-galactosidase A. Hereby we report a 39 year old male that presented with proteinuria and edema. Histopathologic, immunofluorescence and ultrastractural examination of renal tissue were in favor  of  Fabry disease in associate with IgA nephropathy. Fabry's disease associated ...

anderson-fabry disease is a rare inherited x-linked lysosomal storage disease caused by deficiency of the enzyme alpha-galactosidase a. hereby we report a 39 year old male that presented with proteinuria and edema. histopathologic, immunofluorescence and ultrastractural examination of renal tissue were in favor  of  fabry disease in associate with iga nephropathy. fabry's disease associated wit...

results approximately 20% of the patients expressed alternatively spliced transcripts of gla mrna involving exon 3. we additionally report that such non-canonical transcripts are physiologically expressed at trace levels in healthy individuals, and that their expression in leukocytes markedly increased in blood samples kept at room-temperature for 48 hours before rna extraction. background defi...

how to cite this article: karimzadeh p. fabery disease (a kind of lysosomal storage disease). iran j child neurol autumn 2012; 6:4(suppl. 1):6. pls see pdf.

BACKGROUND Cardiac complications in Fabry disease are frequent and dominated by a high frequency of left ventricular hypertrophy; therefore, cardiologists may have an essential role in screening for this disease. Providing cardiologists with targeted information on Fabry disease would be valuable and could reduce both diagnostic and therapeutic delays. The aim of this study was to evaluate the ...

BACKGROUND AND PURPOSE Dolichoectasia of the basilar artery is a characteristic finding of Fabry disease. However, its prevalence, severity, and course have been poorly studied. This study quantitatively evaluated, by MRA, a panel of basilar artery parameters in a large cohort of patients with Fabry disease. MATERIALS AND METHODS Basilar artery mean diameter, curved length, "origin-to-end" li...

Fabry disease is an X-linked lysosomal storage disease due to alpha-galactosidase A (α-Gal A) deficient activity which leads to the accumulation of glucoesphingolipids, such as globotriaosilceramide. There are over 700 known mutations of the enzyme gene, and most of them cause Fabry Disease. This case report describes a hemodialysis patient with a rare and controversial GLA gene mutation, the D...