About The Medical Condition Sialurias
Find the definition of the medical term Sialurias. Sialurias defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Sialurias
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What's The Definition Of The Medical Condition Sialurias?
Autosomal recessive neurodegenerative disorders caused by lysosomal membrane transport defects that result in accumulation of free sialic acid (N-ACETYLNEURAMINIC ACID) within the lysosomes. The two main clinical phenotypes, which are allelic variants of the SLC17A5 gene, are ISSD, a severe infantile form, or Salla disease, a slowly progressive adult form, named for the geographic area in Finland where the kindred first studied resided.
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