Learn About Mucolipidosis 3

What is the definition of Mucolipidosis 3?

Mucolipidosis III alpha/beta is a disorder that affects many parts of the body. Signs and symptoms of this condition typically appear around age 3 and worsen slowly over time.

What are the causes of Mucolipidosis 3?

Mutations in the GNPTAB gene cause mucolipidosis III alpha/beta. This gene provides instructions for making a part (subunit) of an enzyme called GlcNAc-1-phosphotransferase. This enzyme helps prepare certain newly made enzymes for transport to lysosomes. Lysosomes are compartments within the cell that use digestive enzymes to break down large molecules into smaller ones that can be reused by cells. GlcNAc-1-phosphotransferase is involved in the process of attaching a molecule called mannose-6-phosphate (M6P) to specific digestive enzymes. Just as luggage is tagged at the airport to direct it to the correct destination, enzymes are often "tagged" after they are made so they get to where they are needed in the cell. M6P acts as a tag that indicates a digestive enzyme should be transported to the lysosome.

How prevalent is Mucolipidosis 3?

Mucolipidosis III alpha/beta is a rare disorder, although its exact prevalence is unknown. It is estimated to occur in about 1 in 100,000 to 400,000 individuals worldwide.

Is Mucolipidosis 3 an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Who are the top Mucolipidosis 3 Local Doctors?
Elite in Mucolipidosis 3
Elite in Mucolipidosis 3
Berlin, BE, DE 

Renata Velho practices in Berlin, Germany. Velho and is rated as an Elite expert by MediFind in the treatment of Mucolipidosis 3. Her top areas of expertise are Mucolipidosis Type 4, Mucolipidosis 3, Sialidosis, and Endometriosis.

Elite in Mucolipidosis 3
Elite in Mucolipidosis 3
Hamburg, HH, DE 

Thomas Braulke practices in Hamburg, Germany. Braulke and is rated as an Elite expert by MediFind in the treatment of Mucolipidosis 3. His top areas of expertise are Mucolipidosis Type 4, Mucolipidosis 3, Sialidosis, and CLN3 Disease.

 
 
 
 
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Elite in Mucolipidosis 3
Medical Genetics
Elite in Mucolipidosis 3
Medical Genetics
111 Michigan Ave Nw, 
Washington, DC 
Languages Spoken:
English

Cynthia Tifft is a Medical Genetics provider in Washington, Washington, D.c.. Dr. Tifft and is rated as an Elite provider by MediFind in the treatment of Mucolipidosis 3. Her top areas of expertise are Sandhoff Disease, Gangliosidosis, GM1 Gangliosidosis, and Tay-Sachs Disease.

What are the latest Mucolipidosis 3 Clinical Trials?
Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders

Objectives: To study the natural history and progression of neurodegeneration in individuals with glycosphingolipid storage disorders (GSL), GM1 and GM2 gangliosidosis, and glycoprotein (GP) disorders including sialidosis and galactosialidosis using clinical evaluation of patients and patient/parent surveys. To develop sensitive tools for monitoring disease progression. To identify biological markers in blood...

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The Natural History of Sialidosis Type I

Summary: Sialidosis type 1 is an autosomal recessive disorder caused by bialleic NEU1 gene mutations. Patients with sialidosis type I present variable neurological and eye dysfunction and the progression rate is variable. The goal of this protocol is to assess the neurological and ophthalmological status of these patients and characterize the clinical and laboratory abnormalities in order to determine the ...

Who are the sources who wrote this article ?

Published Date: October 01, 2014
Published By: National Institutes of Health

What are the Latest Advances for Mucolipidosis 3?
TPCs: From plant to human.
TPCs: From plant to human.
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