Sialuria
SpecialtyMedical 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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  1. ^ 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.
  2. ^ "Sialuria: MedlinePlus Genetics". medlineplus.gov. Retrieved 10 January 2021.
  3. ^ "Sialuria, French type | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on January 24, 2017. Retrieved 10 January 2021.
  4. ^ "Orphanet: Sialuria". www.orpha.net. Retrieved 10 January 2021.
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📚 Artikel Terkait di Wikipedia

Salla disease

intellectual disability. Salla disease (also referred to as Finnish-type sialuria, OMIM#604369) was first reported as a lysosomal storage disorder in a family

Sialic acid

siálico libre: enfermedad de Salla (incluida su forma infantil grave) y sialuria". EMC - Pediatría (in Spanish). 42: 1–3. doi:10.1016/S1245-1789(07)70257-3

Unibrow

difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome Sialuria Skin creases, congenital symmetric circumferential, 2 Smith-Magenis syndrome

Coarse facial features

Alpha.(3) Sialidosis type II (congenital) Sialidosis type II (infantile) Sialuria syndrome Simpson–Golabi–Behmel syndrome Simpson–Golabi–Behmel syndrome

Macrocephaly

Schneckenbecken dysplasia Sclerosteosis Severe X-linked myotubular myopathy Sialuria Simpson-Golabi-Behmel syndrome Snijders Blok-Campeau syndrome Sotos syndrome

GNE (gene)

implicated in the tumorigenicity and metastatic behavior of malignant cells. Sialuria is a rare inborn error of metabolism characterized by cytoplasmic accumulation

Finnish heritage disease

Optic atrophy RAPADILINO syndrome Retinoschisis 1, X-linked, juvenile Sialuria, Finnish type (Salla disease) Tibial muscular dystrophy, tardive Usher

List of diseases (S)

phenomenon Shy–Drager syndrome Sialadenitis Sialidosis type 1 and 3 Sialidosis Sialuria, French type Sickle cell anemia Sideroblastic anemia, autosomal Siderosis