Galactosialidosis

Common Name(s)

Galactosialidosis

Galactosialidosis is an autosomal recessive lysosomal storage disorder caused by mutations in the CTSA gene.  It is characterized by coarse facial features, macular cherry-red spots, angiokeratoma (dark red spots on the skin), vertebral deformities, epilepsy, action myoclonus, and ataxia. There are three different types of galactosialidosis: early infantile, late infantile and juvenile/adult. The three forms of galactosialidosis are distinguished by the age at which symptoms develop and the pattern of features.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Galactosialidosis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Galactosialidosis" returned 18 free, full-text research articles on human participants. First 3 results:

Clinical utility of whole-exome sequencing in rare diseases: Galactosialidosis.
 

Author(s): Carlos E Prada, Claudia Gonzaga-Jauregui, Rebecca Tannenbaum, Samantha Penney, James R Lupski, Robert J Hopkin, V Reid Sutton

Journal: Eur J Med Genet. 2014 Jul;57(7):339-344.

 

Rare genetic disorders can go undiagnosed for years as the entire spectrum of phenotypic variation is not well characterized given the reduced number of patients reported in the literature and the low frequency at which these occur. Moreover, the current paradigm for clinical diagnostics ...

Last Updated: 13 Jun 2014

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Preclinical dose-finding study with a liver-tropic, recombinant AAV-2/8 vector in the mouse model of galactosialidosis.
 

Author(s): Huimin Hu, Elida Gomero, Erik Bonten, John T Gray, Jim Allay, Yanan Wu, Jianrong Wu, Christopher Calabrese, Arthur Nienhuis, Alessandra d'Azzo

Journal: Mol. Ther.. 2012 Feb;20(2):267-74.

 

Galactosialidosis (GS) is a lysosomal storage disease linked to deficiency of the protective protein/cathepsin A (PPCA). Similarly to GS patients, Ppca-null mice develop a systemic disease of the reticuloendothelial system, affecting most visceral organs and the nervous system. Symptoms ...

Last Updated: 2 Feb 2012

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Glycan profiling of urine, amniotic fluid and ascitic fluid from galactosialidosis patients reveals novel oligosaccharides with reducing end hexose and aldohexonic acid residues.
 

Author(s): Cees Bruggink, Ben J H M Poorthuis, Monique Piraud, Roseline Froissart, André M Deelder, Manfred Wuhrer

Journal: FEBS J.. 2010 Jul;277(14):2970-86.

 

Urine, amniotic fluid and ascitic fluid samples of galactosialidosis patients were analyzed and structurally characterized for free oligosaccharides using capillary high-performance anion-exchange chromatography with pulsed amperometric detection and online mass spectrometry. In addition ...

Last Updated: 19 Jul 2010

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Galactosialidosis" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Longitudinal Studies of the Glycoproteinoses
 

Status: Recruiting

Condition Summary: Aspartylglucosaminuria; Fucosidosis; Galactosialidosis; Alpha Mannosidosis; Beta Mannosidosis; Mucolipidosis II; Mucolipidosis III; Schindler Disease; Sialidosis

 

Last Updated: 31 Jul 2017

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