Sialuria
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| Sialuria | |
|---|---|
| Specialty | Medical genetics |
Sialuria is a group of disorders resulting in an accumulation of free sialic acid.[1] One type, known as the Finnish type or Salla disease has been described in northeastern Finland and is due to a mutation in gene SLC17A5 on chromosome 6q4-15.[1] The "French type sialuria" (Online Mendelian Inheritance in Man (OMIM): 269921),[1] is a very rare condition presenting in infancy with failure to thrive, yellowish skin, large liver, low blood count, recurrent chest infections, bowel upsets, dehydration and characteristic facial features.[2][3][4]
References
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