alexa Early Infantile Galactosialidosis Presenting with an Unusual Renal Involvement
ISSN: 2157-7412

Journal of Genetic Syndromes & Gene Therapy
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Case Report

Early Infantile Galactosialidosis Presenting with an Unusual Renal Involvement

Banu Guzel Nur1, Gulsah Kaya Aksoy2, Mustafa Koyun2, Sema Akman2 and Ercan Mihci1*

1Akdeniz University School of Medicine, Department of Pediatrics, Division of Pediatric Genetics, Antalya, Turkey

2Akdeniz University School of Medicine, Department of Pediatrics, Division of Pediatric Nephrology, Antalya, Turkey

*Corresponding Author:
Ercan Mihci
Pediatrician, Akdeniz University School of Medicine
Department of Pediatric Genetics, Antalya, Turkey
Tel: +90-242-249-6517
Fax: +90-242-227-4320

Received date: August 01, 2014; Accepted date:September 17, 2014; Published date: September 23, 2014

Citation: Nur BG, Aksoy GK, Koyun M, Akman S, Mihci E (2014) Early Infantile Galactosialidosis Presenting with an Unusual Renal Involvement. J Genet Syndr Gene Ther 5:244 doi: 10.4172/2157-7412.1000244

Copyright: © 2014 Nur BG, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.



Galactosialidosis is a rare lysosomal storage disease associated with deficiencies of beta-galactosidase and neurominidase. In this report, we present a 9-month-old early infantile Galactosialidosis infant with renal involvement. In the literature only isolated cases of Galactosialidosis with IgA nepropathy, renal insufficiency and renal transplantation reported. To the best of our knowledge, the patient is the first case reported in the literature in which steroid resistant nephrotic syndrome has been found in a Galactosialidosis patient.


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