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
- ^ a b c Hersh, Craig P.; De Meo, Dawn L.; Silverman, Edwin K. (2005). "10. Chronic obstructive pulmonary disease". In Lomas, David; Silverman, Edwin; Weiss, Scott; Shapiro, Steven (eds.). Respiratory Genetics. Hodder Arnold. p. 265. ISBN 0-340-814322.
- ^ "Sialuria: MedlinePlus Genetics". medlineplus.gov. Retrieved 10 January 2021.
- ^ "Sialuria, French type | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 10 January 2021.
- ^ "Orphanet: Sialuria". www.orpha.net. Retrieved 10 January 2021.
External links
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