Gibson K M, Bennett M J, Mize C E, Jakobs C, Rotig A, Munnich A, Lichter-Konecki U, Trefz F K
Kimberly H. Courtwright and Joseph W. Summers Metabolic Disease Center, Baylor University Medical Center, Dallas, Texas.
J Pediatr. 1992 Dec;121(6):940-2. doi: 10.1016/s0022-3476(05)80348-8.
3-Methylglutaconic aciduria was detected in four patients with Pearson syndrome, a multitissue disorder with hematologic abnormalities, lactic acidosis resulting from defective oxidative phosphorylation, and deletions in the mitochondrial genome. 3-Methylglutaconic acid may be an additional useful marker for Pearson syndrome and may be a more specific marker than other organic acids identified in this disorder.
在4例患有皮尔逊综合征的患者中检测到3-甲基戊二酸尿症。皮尔逊综合征是一种多组织疾病，伴有血液学异常、氧化磷酸化缺陷导致的乳酸性酸中毒以及线粒体基因组缺失。3-甲基戊二酸可能是皮尔逊综合征的另一个有用标志物，并且可能是比该疾病中鉴定出的其他有机酸更具特异性的标志物。
