Elevated urinary pipecolic acid level

MedGen UID:: 1054858
•Concept ID:: CN376779
•: Finding

HPO:	HP:6000269

Definition

The amount of pipecolic acid in the urine, normalized for urine concentration, is above the upper limit of normal. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVElevated urinary pipecolic acid level

Abnormality of the urinary system physiology
- Abnormality of urine homeostasis
  - Abnormal urine metabolite level
    - Abnormal urine carboxylic acid level
      - Elevated urinary carboxylic acid
        Monocarboxylic aciduria
        Elevated urinary pipecolic acid level

Recent clinical studies

Etiology

Metabolomics reveals attenuation of the SLC6A20 kidney transporter in nonhuman primate and mouse models of type 2 diabetes mellitus.

Patterson AD, Bonzo JA, Li F, Krausz KW, Eichler GS, Aslam S, Tigno X, Weinstein JN, Hansen BC, Idle JR, Gonzalez FJ
J Biol Chem 2011 Jun 3;286(22):19511-22. Epub 2011 Apr 12 doi: 10.1074/jbc.M111.221739. PMID: 21487016 Free PMC Article

Neonatal seizures and severe hypotonia in a male infant suffering from a defect in peroxisomal beta-oxidation.

Van Maldergem L, Espeel M, Wanders RJ, Roels F, Gerard P, Scalais E, Mannaerts GP, Casteels M, Gillerot Y
Neuromuscul Disord 1992;2(3):217-24. doi: 10.1016/0960-8966(92)90009-u. PMID: 1483048

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Diagnosis

A metabolomic analytical approach permits identification of urinary biomarkers for Plasmodium falciparum infection: a case-control study.

Abdelrazig S, Ortori CA, Davey G, Deressa W, Mulleta D, Barrett DA, Amberbir A, Fogarty AW
Malar J 2017 May 30;16(1):229. doi: 10.1186/s12936-017-1875-z. PMID: 28558710 Free PMC Article

Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.

Bok LA, Struys E, Willemsen MA, Been JV, Jakobs C
Arch Dis Child 2007 Aug;92(8):687-9. Epub 2006 Nov 6 doi: 10.1136/adc.2006.103192. PMID: 17088338 Free PMC Article

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Therapy

A metabolomic analytical approach permits identification of urinary biomarkers for Plasmodium falciparum infection: a case-control study.

Abdelrazig S, Ortori CA, Davey G, Deressa W, Mulleta D, Barrett DA, Amberbir A, Fogarty AW
Malar J 2017 May 30;16(1):229. doi: 10.1186/s12936-017-1875-z. PMID: 28558710 Free PMC Article

Metabolomics reveals attenuation of the SLC6A20 kidney transporter in nonhuman primate and mouse models of type 2 diabetes mellitus.

Pyridoxine-dependent seizures in Dutch patients: diagnosis by elevated urinary alpha-aminoadipic semialdehyde levels.

Bok LA, Struys E, Willemsen MA, Been JV, Jakobs C
Arch Dis Child 2007 Aug;92(8):687-9. Epub 2006 Nov 6 doi: 10.1136/adc.2006.103192. PMID: 17088338 Free PMC Article

Origin of D- and L-pipecolic acid in human physiological fluids: a study of the catabolic mechanism to pipecolic acid using the lysine loading test.

Fujita T, Hada T, Higashino K
Clin Chim Acta 1999 Sep;287(1-2):145-56. doi: 10.1016/s0009-8981(99)00129-1. PMID: 10509903

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