Sialuria Explained

Sialuria
Field: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",[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]

Notes and References

  1. Book: Hersh. Craig P.. https://books.google.com/books?id=pmvNBQAAQBAJ&pg=PA265. Respiratory Genetics. De Meo. Dawn L.. Silverman. Edwin K.. Hodder Arnold. 2005. 0-340-814322. Lomas. David. 265. 10. Chronic obstructive pulmonary disease. Silverman. Edwin. Weiss. Scott. Shapiro. Steven.
  2. Web site: Sialuria: MedlinePlus Genetics . medlineplus.gov . 10 January 2021 . en.
  3. Web site: Sialuria, French type Genetic and Rare Diseases Information Center (GARD) – an NCATS Program . rarediseases.info.nih.gov . 10 January 2021.
  4. Web site: Orphanet: Sialuria . www.orpha.net . 10 January 2021.

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