Mucolipidosis III

Common Name(s)

Mucolipidosis III

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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National MPS Society

The National MPS Society exists to find cures for MPS and related diseases. We provide hope and support for affected individuals and their families through research, advocacy and awareness of these devastating diseases.

Last Updated: 22 Oct 2012

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The International Society for Mannosidosis and Related Diseases

ISMRD is the leading advocate for families worldwide affected by a Glycoprotein & Related Storage Disease. Through partnerships built with medicine, science and industry, we seek to detect and cure these diseases and to enable a network of support and information.

Last Updated: 11 Dec 2012

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Logo
National MPS Society

The National MPS Society exists to find cures for MPS and related diseases. We provide hope and support for affected individuals and their families through research, advocacy and awareness of these devastating diseases.

http://www.mpssociety.org

Last Updated: 22 Oct 2012

View Details
The International Society for Mannosidosis and Related Diseases

ISMRD is the leading advocate for families worldwide affected by a Glycoprotein & Related Storage Disease. Through partnerships built with medicine, science and industry, we seek to detect and cure these diseases and to enable a network of support and information.

http://www.ismrd.org

Last Updated: 11 Dec 2012

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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 "Mucolipidosis III" returned 22 free, full-text research articles on human participants. First 3 results:

Mislocalization of phosphotransferase as a cause of mucolipidosis III αβ.
 

Author(s): Eline van Meel, Yi Qian, Stuart A Kornfeld

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2014 Mar;111(9):3532-7.

 

The lysosomal storage disorder mucolipidosis III αβ is caused by mutations in the αβ subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (phosphotransferase). This Golgi-localized enzyme mediates the first step in the synthesis of the mannose 6-phosphate ...

Last Updated: 5 Mar 2014

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Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene.
 

Author(s): G K Cury, U Matte, O Artigalás, T Alegra, R V Velho, F Sperb, M G Burin, E M Ribeiro, C M Lourenço, C A Kim, E R Valadares, M F Galera, A X Acosta, I V D Schwartz

Journal: Gene. 2013 Jul;524(1):59-64.

 

Mucolipidosis II and III (MLII and MLIII) alpha/beta are rare autosomal recessive lysosomal storage diseases (LSDs) caused by pathogenic variations in the GNPTAB gene. GNPTAB gene codes for the α and β subunits of phosphotransferase, the enzyme responsible for synthesis of the mannose-6-phosphate ...

Last Updated: 21 May 2013

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Oral findings in patients with mucolipidosis type III.
 

Author(s): Weber Céo Cavalcante, Luciano Cincurá Silva Santos, Josiane Nascimento Dos Santos, Sara Juliana de Abreu de Vasconcellos, Roberto Almeida de Azevedo, Jean Nunes Dos Santos

Journal: Braz Dent J. 2012 ;23(4):461-6.

 

Mucolipidosis type III is a rare, autosomal recessive disorder, which is part of a group of storage diseases as a result of inborn error of lysosomal enzyme metabolism. It is characterized by the gradual onset of signs and symptoms affecting the physical and mental development as ...

Last Updated: 4 Dec 2012

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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 "Mucolipidosis III" returned 1 free, full-text review articles on human participants. First 3 results:

Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins.
 

Author(s): Thomas Dierks, Lars Schlotawa, Marc-André Frese, Karthikeyan Radhakrishnan, Kurt von Figura, Bernhard Schmidt

Journal: Biochim. Biophys. Acta. 2009 Apr;1793(4):710-25.

 

Multiple sulfatase deficiency (MSD), mucolipidosis (ML) II/III and Niemann-Pick type C1 (NPC1) disease are rare but fatal lysosomal storage disorders caused by the genetic defect of non-lysosomal proteins. The NPC1 protein mainly localizes to late endosomes and is essential for cholesterol ...

Last Updated: 30 Mar 2009

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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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: 9 Sep 2014

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HSCT for High Risk Inherited Inborn Errors
 

Status: Recruiting

Condition Summary: Adrenoleukodystrophy; Metachromatic Leukodystrophy; Globoid Cell Leukodystrophy; Tay Sachs Disease; Sandhoffs Disease; Wolman Disease; I-Cell Disease; Sanfilippo Syndrome; GM1 Gangliosidosis

 

Last Updated: 8 Jul 2014

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