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Increased level of N-acetylneuraminic acid in urine

MedGen UID:
1639053
Concept ID:
C4703650
Finding
Synonyms: Increased level of NANA in urine; Increased level of Neu5Ac in urine; Increased urinary sialic acid
 
HPO: HP:0410156

Definition

An increase in the level of N-acetylneuraminic acid in the urine. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased level of N-acetylneuraminic acid in urine

Conditions with this feature

Sialuria
MedGen UID:
137980
Concept ID:
C0342853
Disease or Syndrome
Sialuria is a rare inborn error of metabolism in which excessive free sialic acid is synthesized. Clinical features include hepatosplenomegaly, coarse facial features, and varying degrees of developmental delay (summary by Enns et al., 2001).

Recent clinical studies

Etiology

Donoghue SE, Heath O, Pitt J, Hong KM, Fuller M, Smith J
Clin Chem Lab Med 2022 Oct 26;60(11):1855-1858. Epub 2022 Aug 25 doi: 10.1515/cclm-2022-0473. PMID: 36000484
Haznadar M, Diehl CM, Parker AL, Krausz KW, Bowman ED, Rabibhadana S, Forgues M, Bhudhisawasdi V, Gonzalez FJ, Mahidol C, Budhu A, Wang XW, Ruchirawat M, Harris CC
Cancer Epidemiol Biomarkers Prev 2019 Oct;28(10):1704-1711. Epub 2019 Jul 29 doi: 10.1158/1055-9965.EPI-19-0453. PMID: 31358519Free PMC Article
Haznadar M, Cai Q, Krausz KW, Bowman ED, Margono E, Noro R, Thompson MD, Mathé EA, Munro HM, Steinwandel MD, Gonzalez FJ, Blot WJ, Harris CC
Cancer Epidemiol Biomarkers Prev 2016 Jun;25(6):978-86. Epub 2016 Mar 24 doi: 10.1158/1055-9965.EPI-15-1191. PMID: 27013655Free PMC Article
Nayak SB, Bhaktha G
Lipids Health Dis 2005 Aug 10;4:15. doi: 10.1186/1476-511X-4-15. PMID: 16092968Free PMC Article
Ozben T
Ann Clin Biochem 1991 Jan;28 ( Pt 1):44-8. doi: 10.1177/000456329102800107. PMID: 2024933

Diagnosis

Donoghue SE, Heath O, Pitt J, Hong KM, Fuller M, Smith J
Clin Chem Lab Med 2022 Oct 26;60(11):1855-1858. Epub 2022 Aug 25 doi: 10.1515/cclm-2022-0473. PMID: 36000484
Haznadar M, Diehl CM, Parker AL, Krausz KW, Bowman ED, Rabibhadana S, Forgues M, Bhudhisawasdi V, Gonzalez FJ, Mahidol C, Budhu A, Wang XW, Ruchirawat M, Harris CC
Cancer Epidemiol Biomarkers Prev 2019 Oct;28(10):1704-1711. Epub 2019 Jul 29 doi: 10.1158/1055-9965.EPI-19-0453. PMID: 31358519Free PMC Article
Haznadar M, Cai Q, Krausz KW, Bowman ED, Margono E, Noro R, Thompson MD, Mathé EA, Munro HM, Steinwandel MD, Gonzalez FJ, Blot WJ, Harris CC
Cancer Epidemiol Biomarkers Prev 2016 Jun;25(6):978-86. Epub 2016 Mar 24 doi: 10.1158/1055-9965.EPI-15-1191. PMID: 27013655Free PMC Article
Wurst FM, Thon N, Weinmann W, Tippetts S, Marques P, Hahn JA, Alling C, Aradottir S, Hartmann S, Lakshman R
Alcohol Clin Exp Res 2012 Feb;36(2):251-7. Epub 2011 Sep 20 doi: 10.1111/j.1530-0277.2011.01618.x. PMID: 21933198
Suzuki K, Ishida H, Sugimoto C, Taguchi Y, Matsuda H, Nosaka K, Someya Y, Kadowaki S, Seino Y
Diabet Med 1995 Dec;12(12):1092-6. doi: 10.1111/j.1464-5491.1995.tb00426.x. PMID: 8750219

Therapy

Konukoğlu D, Akçay T, Celik C, Erözenci A
Cancer Lett 1995 Jul 20;94(1):97-100. doi: 10.1016/0304-3835(95)03830-p. PMID: 7621452

Prognosis

Haznadar M, Diehl CM, Parker AL, Krausz KW, Bowman ED, Rabibhadana S, Forgues M, Bhudhisawasdi V, Gonzalez FJ, Mahidol C, Budhu A, Wang XW, Ruchirawat M, Harris CC
Cancer Epidemiol Biomarkers Prev 2019 Oct;28(10):1704-1711. Epub 2019 Jul 29 doi: 10.1158/1055-9965.EPI-19-0453. PMID: 31358519Free PMC Article
Nayak SB, Bhaktha G
Lipids Health Dis 2005 Aug 10;4:15. doi: 10.1186/1476-511X-4-15. PMID: 16092968Free PMC Article
Powrie JK, Watts GF, Crook MA, Ingham JN, Taub NA, Shaw KM
Diabet Med 1996 Mar;13(3):238-42. doi: 10.1002/(SICI)1096-9136(199603)13:3<238::AID-DIA29>3.0.CO;2-W. PMID: 8689844
Konukoğlu D, Akçay T, Celik C, Erözenci A
Cancer Lett 1995 Jul 20;94(1):97-100. doi: 10.1016/0304-3835(95)03830-p. PMID: 7621452
Crook MA, Earle K, Morocutti A, Yip J, Viberti G, Pickup JC
Diabetes Care 1994 Apr;17(4):305-10. doi: 10.2337/diacare.17.4.305. PMID: 8026286

Clinical prediction guides

Donoghue SE, Heath O, Pitt J, Hong KM, Fuller M, Smith J
Clin Chem Lab Med 2022 Oct 26;60(11):1855-1858. Epub 2022 Aug 25 doi: 10.1515/cclm-2022-0473. PMID: 36000484
Haznadar M, Diehl CM, Parker AL, Krausz KW, Bowman ED, Rabibhadana S, Forgues M, Bhudhisawasdi V, Gonzalez FJ, Mahidol C, Budhu A, Wang XW, Ruchirawat M, Harris CC
Cancer Epidemiol Biomarkers Prev 2019 Oct;28(10):1704-1711. Epub 2019 Jul 29 doi: 10.1158/1055-9965.EPI-19-0453. PMID: 31358519Free PMC Article
Nayak SB, Bhaktha G
Lipids Health Dis 2005 Aug 10;4:15. doi: 10.1186/1476-511X-4-15. PMID: 16092968Free PMC Article
Powrie JK, Watts GF, Crook MA, Ingham JN, Taub NA, Shaw KM
Diabet Med 1996 Mar;13(3):238-42. doi: 10.1002/(SICI)1096-9136(199603)13:3<238::AID-DIA29>3.0.CO;2-W. PMID: 8689844
Crook MA, Earle K, Morocutti A, Yip J, Viberti G, Pickup JC
Diabetes Care 1994 Apr;17(4):305-10. doi: 10.2337/diacare.17.4.305. PMID: 8026286

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