Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 7 of 7 for Sialuria
  1. Sialic acid storage disease 
    Sialic acid storage disease is an inherited disorder that primarily affects the nervous system. People with sialic acid storage disease have signs and symptoms ...
    https://medlineplus.gov/.../condition/sialic-acid-storage-disease - Genetics
  2. Sialuria 
    Sialuria is a rare disorder that affects development. Infants with sialuria are often born with a yellow ...
    https://medlineplus.gov/genetics/condition/sialuria - Genetics
  3. GNE gene 
    ... the GNE gene have been found to cause sialuria. Each of these variants changes a single amino ... body interferes with normal development in people with sialuria. More About This Health Condition Some people with ...
    https://medlineplus.gov/genetics/gene/gne - Genetics
  4. SLC17A5 gene 
    ... not well understood. Approximately 20 mutations that cause sialic acid storage disease have been identified in the SLC17A5 gene. Some ... the lysosomal membrane.There are three forms of sialic acid storage disease. A particular SLC17A5 mutation, found primarily in people ...
    https://medlineplus.gov/genetics/gene/slc17a5 - Genetics
  5. 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
  6. 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
  7. 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 , also called ...
    https://medlineplus.gov/.../dtcgenetictesting/dtcghrpages - Genetics