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Lysosomal Free Sialic Acid Storage Disorders
Abstract
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NORD is very grateful to William A. Gahl, MD, PhD, Clinical Director, National Human Genome Research Institute; Head, Section on Human Biochemical Genetics, Medical Genetics Branch; Head, Intramural Program, Office of Rare Diseases, National Institutes of Health, for assistance in the preparation of this report.
Synonyms of Lysosomal Free Sialic Acid Storage Disorders
- No synonyms found.
Disorder Subdivisions
- infantile free sialic acid storage disease (ISSD)
- intermediate Salla disease
- Salla disease
General Discussion
Free sialic acid storage disorders are a group of related disorders characterized by the abnormal accumulation of sialic acid in various cells and tissues of the body. These disorders are generally broken down into three subtypes: infantile free sialic acid storage disease (ISSD), the most severe form; Salla disease, the mildest form; and intermediate Salla disease which is less severe than ISSD, but more serious than Salla disease. The specific symptoms associated with these disorders can vary greatly. All the disorders are characterized by some degree of degeneration of nerve cells (neurodegeneration) and cognitive impairment. Free sialic acid storage disorders occur because of mutations of the SLC17A5 gene and are inherited in an autosomal recessive fashion.
Free sialic acid storage disorders belong to a larger group of disorders known as lysosomal storage disorders. Lysosomes are membrane-bound compartments within cells. They contain enzymes that break down large molecules such as proteins, carbohydrates and fats into their building blocks. Low levels or inactivity of a transport protein known as sialin leads to the abnormal accumulation (storage) of sialic acid in the tissues of affected individuals. Sialin normally helps transport sialic acid out of lysosomes.
Organizations related to Lysosomal Free Sialic Acid Storage Disorders
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