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Sialuria
- Sialic acid storage disease is an inherited disorder that primarily affects the nervous system. People with sialic acid storage disease have signs and symptoms ...
- Sialuria is a rare disorder that affects development. Infants with sialuria are often born with a yellow ...
- ... 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 ...
- ... 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 ...
- ... Primary hyperoxaluria Pyruvate kinase deficiency Rhizomelic chondrodysplasia punctata Sialic acid storage disease , including Salla disease Sickle cell disease , also called ...
