Sialuria is a group of disorders resulting in an accumulation of free
sialic acid
Sialic acids are a class of alpha-keto acid sugars with a nine-carbon backbone.
The term "sialic acid" () was first introduced by Swedish biochemist Gunnar Blix in 1952. The most common member of this group is ''N''-acetylneuraminic acid ...
.
One type, known as the Finnish type or
Salla disease
Salla disease (SD) or mild Free Sialic Acid Storage Disease (FSASD) is an autosomal recessive lysosomal storage disease characterized by early physical impairment and intellectual disability. Salla disease (also referred to as Finnish-type sialur ...
has been described in northeastern Finland and is due to a mutation in gene SLC17A5 on chromosome 6q4-15.
The "French type sialuria" (),
is a very rare condition presenting in infancy with
failure to thrive
Failure to thrive (FTT), also known as weight faltering or faltering growth, indicates insufficient weight gain or absence of appropriate physical growth in children. FTT is usually defined in terms of weight, and can be evaluated either by a low ...
,
yellowish skin,
large liver,
low blood count, recurrent chest infections,
bowel upsets, dehydration and characteristic facial features.
References
External links
Urine
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