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Decreased urine alpha-ketoglutarate concentration

MedGen UID:
868515
•Concept ID:
C4022914
•
Finding
Synonym: Decreased urinary 2-oxoglutarate
 
HPO: HP:0012403

Definition

A lower than normal concentration of 2-oxoglutaric acid in the urine. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased urine alpha-ketoglutarate concentration

Recent clinical studies

Etiology

A study of low-molecular-weight organic acid urinary profiles in prostate cancer by a new liquid chromatography-tandem mass spectrometry method.
Klupczynska A, Plewa S, Sytek N, Sawicki W, Dereziński P, Matysiak J, Kokot ZJ
J Pharm Biomed Anal 2018 Sep 10;159:229-236. Epub 2018 Jun 30 doi: 10.1016/j.jpba.2018.06.059. PMID: 29990890
Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.
Mayr JA, Zimmermann FA, Fauth C, Bergheim C, Meierhofer D, Radmayr D, Zschocke J, Koch J, Sperl W
Am J Hum Genet 2011 Dec 9;89(6):792-7. doi: 10.1016/j.ajhg.2011.11.011. PMID: 22152680Free PMC Article
Ornithine alpha-ketoglutarate improves wound healing in severe burn patients: a prospective randomized double-blind trial versus isonitrogenous controls.
Coudray-Lucas C, Le Bever H, Cynober L, De Bandt JP, Carsin H
Crit Care Med 2000 Jun;28(6):1772-6. doi: 10.1097/00003246-200006000-00012. PMID: 10890617
Ornithine-alpha-ketoglutarate improves skeletal muscle protein synthesis as assessed by ribosome analysis and nitrogen use after surgery.
Wernerman J, Hammarqvist F, von der Decken A, Vinnars E
Ann Surg 1987 Nov;206(5):674-8. doi: 10.1097/00000658-198711000-00020. PMID: 3118827Free PMC Article
Asymptomatic hyperammonemia in low birthweight infants.
Batshaw ML, Bursilow SW
Pediatr Res 1978 Mar;12(3):221-4. doi: 10.1203/00006450-197803000-00012. PMID: 643393

Diagnosis

Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.
Bedoyan JK, Yang SP, Ferdinandusse S, Jack RM, Miron A, Grahame G, DeBrosse SD, Hoppel CL, Kerr DS, Wanders RJA
Mol Genet Metab 2017 Apr;120(4):342-349. Epub 2017 Feb 2 doi: 10.1016/j.ymgme.2017.02.002. PMID: 28202214Free PMC Article
Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment.
Mühlhausen C, Salomons GS, Lukacs Z, Struys EA, van der Knaap MS, Ullrich K, Santer R
J Inherit Metab Dis 2014 Sep;37(5):775-81. Epub 2014 Apr 1 doi: 10.1007/s10545-014-9702-y. PMID: 24687295
Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.
Mayr JA, Zimmermann FA, Fauth C, Bergheim C, Meierhofer D, Radmayr D, Zschocke J, Koch J, Sperl W
Am J Hum Genet 2011 Dec 9;89(6):792-7. doi: 10.1016/j.ajhg.2011.11.011. PMID: 22152680Free PMC Article

Therapy

Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment.
Mühlhausen C, Salomons GS, Lukacs Z, Struys EA, van der Knaap MS, Ullrich K, Santer R
J Inherit Metab Dis 2014 Sep;37(5):775-81. Epub 2014 Apr 1 doi: 10.1007/s10545-014-9702-y. PMID: 24687295
Ornithine alpha-ketoglutarate improves wound healing in severe burn patients: a prospective randomized double-blind trial versus isonitrogenous controls.
Coudray-Lucas C, Le Bever H, Cynober L, De Bandt JP, Carsin H
Crit Care Med 2000 Jun;28(6):1772-6. doi: 10.1097/00003246-200006000-00012. PMID: 10890617
Ornithine-alpha-ketoglutarate improves skeletal muscle protein synthesis as assessed by ribosome analysis and nitrogen use after surgery.
Wernerman J, Hammarqvist F, von der Decken A, Vinnars E
Ann Surg 1987 Nov;206(5):674-8. doi: 10.1097/00000658-198711000-00020. PMID: 3118827Free PMC Article

Prognosis

Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.
Bedoyan JK, Yang SP, Ferdinandusse S, Jack RM, Miron A, Grahame G, DeBrosse SD, Hoppel CL, Kerr DS, Wanders RJA
Mol Genet Metab 2017 Apr;120(4):342-349. Epub 2017 Feb 2 doi: 10.1016/j.ymgme.2017.02.002. PMID: 28202214Free PMC Article
Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment.
Mühlhausen C, Salomons GS, Lukacs Z, Struys EA, van der Knaap MS, Ullrich K, Santer R
J Inherit Metab Dis 2014 Sep;37(5):775-81. Epub 2014 Apr 1 doi: 10.1007/s10545-014-9702-y. PMID: 24687295
Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation.
Mayr JA, Zimmermann FA, Fauth C, Bergheim C, Meierhofer D, Radmayr D, Zschocke J, Koch J, Sperl W
Am J Hum Genet 2011 Dec 9;89(6):792-7. doi: 10.1016/j.ajhg.2011.11.011. PMID: 22152680Free PMC Article

Clinical prediction guides

A study of low-molecular-weight organic acid urinary profiles in prostate cancer by a new liquid chromatography-tandem mass spectrometry method.
Klupczynska A, Plewa S, Sytek N, Sawicki W, Dereziński P, Matysiak J, Kokot ZJ
J Pharm Biomed Anal 2018 Sep 10;159:229-236. Epub 2018 Jun 30 doi: 10.1016/j.jpba.2018.06.059. PMID: 29990890
Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment.
Mühlhausen C, Salomons GS, Lukacs Z, Struys EA, van der Knaap MS, Ullrich K, Santer R
J Inherit Metab Dis 2014 Sep;37(5):775-81. Epub 2014 Apr 1 doi: 10.1007/s10545-014-9702-y. PMID: 24687295

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