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Urinary excretion of sialylated oligosaccharides

MedGen UID:
435893
Concept ID:
C2673302
Finding
Synonym: Increased urinary sialyloligosaccharides
 
HPO: HP:0012061

Definition

Excretion of oligosaccharides conjugated to sialic acid in the urine. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVUrinary excretion of sialylated oligosaccharides

Conditions with this feature

Sialidosis type 2
MedGen UID:
924303
Concept ID:
C4282398
Disease or Syndrome
Sialidosis is an autosomal recessive disorder characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides caused by a deficiency of the enzyme neuraminidase. Common to the sialidoses is the accumulation and/or excretion of sialic acid (N-acetylneuraminic acid) covalently linked ('bound') to a variety of oligosaccharides and/or glycoproteins (summary by Lowden and O'Brien, 1979). The sialidoses are distinct from the sialurias in which there is storage and excretion of 'free' sialic acid, rather than 'bound' sialic acid; neuraminidase activity in sialuria is normal or elevated. Salla disease (604369) is a form of 'free' sialic acid disease. Classification Lowden and O'Brien (1979) provided a logical nosology of neuraminidase deficiency into sialidosis type I and type II. Type I is the milder form, also known as the 'normosomatic' type or the cherry red spot-myoclonus syndrome. Sialidosis type II is the more severe form with an earlier onset, and is also known as the 'dysmorphic' type. Type II has been subdivided into juvenile and infantile forms. Other terms for sialidosis type II are mucolipidosis I and lipomucopolysaccharidosis.

Recent clinical studies

Etiology

Poland DC, Schalkwijk CG, Stehouwer CD, Koeleman CA, van het Hof B, van Dijk W
Glycoconj J 2001 Mar;18(3):261-8. doi: 10.1023/a:1012412908983. PMID: 11602810
Maury CP, Sjöblom C, Wegelius O
Arthritis Rheum 1981 Sep;24(9):1137-41. doi: 10.1002/art.1780240904. PMID: 6975637
Maury P
Eur J Clin Invest 1978 Dec;8(6):405-9. doi: 10.1111/j.1365-2362.1978.tb00872.x. PMID: 105913

Diagnosis

Alonzi DS, Su YH, Butters TD
Biochem Soc Trans 2011 Jan;39(1):393-8. doi: 10.1042/BST0390393. PMID: 21265811

Prognosis

Alonzi DS, Su YH, Butters TD
Biochem Soc Trans 2011 Jan;39(1):393-8. doi: 10.1042/BST0390393. PMID: 21265811

Clinical prediction guides

Alonzi DS, Su YH, Butters TD
Biochem Soc Trans 2011 Jan;39(1):393-8. doi: 10.1042/BST0390393. PMID: 21265811
Shimada I, Shoji M, Futatsuya R, Katoh T, Kominato Y, Sakamoto T, Fujikura T
J Gastroenterol 1995 Feb;30(1):21-7. doi: 10.1007/BF01211370. PMID: 7719410

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