Sialidosis Overview
Learn About Sialidosis
Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features.
Mutations in the NEU1 gene cause sialidosis. This gene provides instructions for making an enzyme called neuraminidase 1 (NEU1), which is found in lysosomes. Lysosomes are compartments within the cell that use enzymes to digest and recycle materials. The NEU1 enzyme helps break down large sugar molecules attached to certain proteins by removing a substance known as sialic acid.
The overall prevalence of sialidosis is unknown. Sialidosis type I appears to be more common in people with Italian ancestry.
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.
Cynthia Tifft is a Medical Genetics provider in Washington, Washington, D.c.. Dr. Tifft is rated as an Elite provider by MediFind in the treatment of Sialidosis. Her top areas of expertise are Sandhoff Disease, Gangliosidosis, GM1 Gangliosidosis, and Tay-Sachs Disease.
Thomas Braulke practices in Hamburg, Germany. Mr. Braulke is rated as an Elite expert by MediFind in the treatment of Sialidosis. His top areas of expertise are Mucolipidosis 3, Mucolipidosis Type 4, Sialidosis, and CLN3 Disease.
Renata Velho practices in Berlin, Germany. Ms. Velho is rated as an Elite expert by MediFind in the treatment of Sialidosis. Her top areas of expertise are Mucolipidosis Type 4, Mucolipidosis 3, Sialidosis, and Endometriosis.
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...
Summary: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, in...
Published Date: May 01, 2010
Published By: National Institutes of Health