About The Medical Condition Sialurias, Finnish Type

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Sialurias, Finnish Type

Sialurias, Finnish Type Medical Condition Defined & Explained
Sialurias, Finnish Type Medical Condition

What's The Definition Of The Medical Condition Sialurias, Finnish Type?

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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