Hyper-2-oxoglutaric aciduria in long-term mental handicap.
One thousand one hundred and seventy-five mentally retarded patients in an institution (733 males and 442 females) were screened for urinary excretion of 2-oxoacids using a quantitative gas chromatographic method. On follow-up, in 10 out of 31 male patients with excretion of greater than or equal to 50 mmoles 2-oxoglutaric acid per mole creatinine, a previously unrecognized bacteriuria was considered the cause of hyper-2-oxoglutaric aciduria. Of the remaining 21, nine had elevated blood citric acid, and four had borderline elevations of blood pyruvic and/or 2-oxoglutaric acid. In the 11 males with persistent hyper-2-oxoglutaric aciduria an increased incidence of seizure disorders and cerebral palsy relative to the total patient population was found. Hyper-2-oxoglutaric aciduria with concomitant abnormalities of blood metabolites is thought to represent a heterogeneous group of mild inborn errors of energy metabolism which may be compatible with survival at least into young adulthood, but not with normal development of mental and neurological functions.
D000328:Adult; D002648:Child; D002849:Chromatography, Gas; D005500:Follow-Up Studies; D006801:Humans; D008607:Intellectual Disability / Q000652:urine*; D007656:Ketoglutaric Acids / Q000652:urine*; D019965:Neurocognitive Disorders / Q000652:urine; D013577:Syndrome
D007656:Ketoglutaric Acids