Hoffmann G, Mench-Hoinowski A, Knüppel H, Langenbeck U
J Ment Defic Res. 1986 Sep;30 ( Pt 3):251-60. doi: 10.1111/j.1365-2788.1986.tb01319.x.
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.
采用定量气相色谱法，对一家机构中的1175名智力迟钝患者（733名男性和442名女性）进行尿中2-氧代酸排泄情况筛查。随访发现，在每摩尔肌酐排泄量大于或等于50毫摩尔2-氧代戊二酸的31名男性患者中，有10名患者之前未被识别的菌尿被认为是高2-氧代戊二酸尿症的病因。在其余21名患者中，9名血液柠檬酸升高，4名血液丙酮酸和/或2-氧代戊二酸临界升高。在11名持续性高2-氧代戊二酸尿症男性患者中，相对于全部患者群体，癫痫症和脑瘫的发病率有所增加。伴有血液代谢物异常的高2-氧代戊二酸尿症被认为代表了一组异质性的轻度先天性能量代谢缺陷，这些缺陷可能至少与存活至青年期相容，但与心理和神经功能的正常发育不相容。
