Sialuria (SIALURIA)

Sialuria, also known as sialic acid storage disease, finnish type, is related to sialic acid storage disease and nonaka myopathy, and has symptoms including seizures, ataxia and athetosis. An important gene associated with Sialuria is GNE (Glucosamine (UDP-N-Acetyl)-2-Epimerase/N-Acetylmannosamine Kinase), and among its related pathways/superpathways are Metabolism of proteins and Transport to the Golgi and subsequent modification. Affiliated tissues include liver and spleen, and related phenotypes are seizure and sleep apnea