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Results 1 - 10 of 11 for SIALIC ACID
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  1. Free sialic acid storage disorder 
    Free sialic acid storage disorder (FSASD) is an inherited condition that primarily affects the brain and spinal cord (central nervous ... severe form of FSASD is called infantile free sialic acid storage disease or ISSD. The signs and symptoms ...
    https://medlineplus.gov/.../free-sialic-acid-storage-disorder - Genetics
  2. ST3GAL5 gene 
    The ST3GAL5 gene provides instructions for making an enzyme called GM3 synthase. This enzyme carries out a chemical reaction that is the first step in the ...
    https://medlineplus.gov/genetics/gene/st3gal5 - Genetics
  3. SLC17A5 gene 
    ... molecules. Sialin moves (transports) a molecule called free sialic acid to other parts of the cell. Sialic acid is produced when fats and proteins are broken ...
    https://medlineplus.gov/genetics/gene/slc17a5 - Genetics
  4. GNE gene 
    ... key role in a chemical pathway that produces sialic acid, which is a simple sugar that attaches to ... the surface of cells. By modifying these molecules, sialic acid influences a wide variety of cellular functions, including ...
    https://medlineplus.gov/genetics/gene/gne - Genetics
  5. Sialuria 
    ... is involved in a chemical pathway that produces sialic acid, which is a simple sugar that attaches to ... the surface of cells. By modifying these molecules, sialic acid influences a wide variety of cellular functions, including ...
    https://medlineplus.gov/genetics/condition/sialuria - Genetics
  6. GNE myopathy 
    ... is involved in a chemical pathway that produces sialic acid, which is a simple sugar that attaches to ... the surface of cells. By modifying these molecules, sialic acid influences a wide variety of cellular functions, including ...
    https://medlineplus.gov/genetics/condition/gne-myopathy - Genetics
  7. Sialidosis 
    ... certain proteins by removing a substance known as sialic acid.Mutations in the NEU1 gene lead to a ... the NEU1 enzyme. When this enzyme is lacking, sialic acid-containing compounds accumulate inside lysosomes. Conditions such as ...
    https://medlineplus.gov/genetics/condition/sialidosis - Genetics
  8. Metabolic Disorders (National Library of Medicine)  
    Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive ...
    https://medlineplus.gov/metabolicdisorders.html - Health Topics
  9. Genetic Brain Disorders (National Library of Medicine)  
    A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. ...
    https://medlineplus.gov/geneticbraindisorders.html - Health Topics
  10. Where can I read more about the diseases and traits covered in my direct-to-consumer genetic testing report?: ... 
    ... Primary hyperoxaluria Pyruvate kinase deficiency Rhizomelic chondrodysplasia punctata Sialic acid storage disease , including Salla disease Sickle cell disease , ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics
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