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Abnormal urine alpha-ketoglutarate concentration

MedGen UID:
866557
•Concept ID:
C4020902
•
Finding
Synonyms: Abnormal urinary 2-oxoglutarate level; Abnormality of urine alpha ketoglutarate concentration
 
HPO: HP:0012401

Definition

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

Recent clinical studies

Etiology

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

Diagnosis

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
Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency.
Engelke UF, Zijlstra FS, Mochel F, Valayannopoulos V, Rabier D, Kluijtmans LA, Perl A, Verhoeven-Duif NM, de Lonlay P, Wamelink MM, Jakobs C, Morava E, Wevers RA
Biochim Biophys Acta 2010 Nov;1802(11):1028-35. Epub 2010 Jun 18 doi: 10.1016/j.bbadis.2010.06.007. PMID: 20600873Free PMC Article

Prognosis

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

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