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Elevated urine tiglylglycine level

MedGen UID:
1841998
•Concept ID:
C5826568
•
Finding
HPO: HP:0034659

Definition

Amount of tiglylglycine in the urine above upper limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVElevated urine tiglylglycine level

Recent clinical studies

Etiology

Elevated Urinary Levels of Fungal and Environmental Toxins in Patients with Pancreatic Ductal Adenocarcinoma.
Rodriguez VI, Mammadova J, Permuth JB, Luthra A, Pena L, Friedman M, Dam A, Cappelle S, Malafa MP, Hallmon C, Miranda C, Mok SRS
J Gastrointest Cancer 2024 Oct 17;56(1):4. doi: 10.1007/s12029-024-01125-4. PMID: 39419859Free PMC Article
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability.
Seaver LH, He XY, Abe K, Cowan T, Enns GM, Sweetman L, Philipp M, Lee S, Malik M, Yang SY
PLoS One 2011;6(11):e27348. Epub 2011 Nov 22 doi: 10.1371/journal.pone.0027348. PMID: 22132097Free PMC Article

Diagnosis

The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation.
Fukao T, Akiba K, Goto M, Kuwayama N, Morita M, Hori T, Aoyama Y, Venkatesan R, Wierenga R, Moriyama Y, Hashimoto T, Usuda N, Murayama K, Ohtake A, Hasegawa Y, Shigematsu Y, Hasegawa Y
J Hum Genet 2014 Nov;59(11):609-14. Epub 2014 Sep 18 doi: 10.1038/jhg.2014.79. PMID: 25231369
Beta-ketothiolase deficiency brought with lethargy: case report.
Arica V, Arica SG, Dag H, Onur H, Obut O, Gülbayzar S
Hum Exp Toxicol 2011 Oct;30(10):1724-7. Epub 2011 Jan 19 doi: 10.1177/0960327110396533. PMID: 21247997

Prognosis

Elevated Urinary Levels of Fungal and Environmental Toxins in Patients with Pancreatic Ductal Adenocarcinoma.
Rodriguez VI, Mammadova J, Permuth JB, Luthra A, Pena L, Friedman M, Dam A, Cappelle S, Malafa MP, Hallmon C, Miranda C, Mok SRS
J Gastrointest Cancer 2024 Oct 17;56(1):4. doi: 10.1007/s12029-024-01125-4. PMID: 39419859Free PMC Article

Clinical prediction guides

Elevated Urinary Levels of Fungal and Environmental Toxins in Patients with Pancreatic Ductal Adenocarcinoma.
Rodriguez VI, Mammadova J, Permuth JB, Luthra A, Pena L, Friedman M, Dam A, Cappelle S, Malafa MP, Hallmon C, Miranda C, Mok SRS
J Gastrointest Cancer 2024 Oct 17;56(1):4. doi: 10.1007/s12029-024-01125-4. PMID: 39419859Free PMC Article

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