Sialuria
Encyclopedia
Sialuria is a condition where there is increased Sialic acid
in the urine.
Types include:
Sialic acid
Sialic acid is a generic term for the N- or O-substituted derivatives of neuraminic acid, a monosaccharide with a nine-carbon backbone. It is also the name for the most common member of this group, N-acetylneuraminic acid...
in the urine.
Types include:
- Salla diseaseSalla diseaseSalla disease , also called sialic acid storage disease or Finnish type sialuria, is an autosomal recessive lysosomal storage disease characterized by early physical impairment and mental retardation. It was first described in 1979, after Salla, a municipality in Finnish Lapland...
("Finnish type sialuria") - "French type sialuria" , associated with GNEGNE (gene)Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase is an enzyme that in humans is encoded by the GNE gene.-External links:*-Further reading:...