Sialuria

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]

Sialuria
Specialty	Medical genetics