Arneson D W, Tipton R E, Ward J C
Arch Neurol. 1982 Nov;39(11):713-6. doi: 10.1001/archneur.1982.00510230039011.
An infant with clinical presentation of the cerebrohepatorenal syndrome (CHRS) of Zellweger was found to have increased plasma and urinary concentrations of pipecolic acid. When given a loading dose of DL-pipecolic acid hydrochloride, she showed a reduced clearance rate for that acid. Piperidine, delta 6-piperidine-2-carboxylic acid, and alpha-aminoadipic acid were not detected in plasma or urine. Her response to a lysine load was comparable to that of controls. These data provide further evidence of the connection between hyperpipecolic acidemia and CHRS.
一名临床表现为泽韦格脑肝肾综合征（CHRS）的婴儿被发现血浆和尿液中哌可酸浓度升高。当给予盐酸DL-哌可酸负荷剂量时，她对该酸的清除率降低。在血浆或尿液中未检测到哌啶、δ6-哌啶-2-羧酸和α-氨基己二酸。她对赖氨酸负荷的反应与对照组相当。这些数据为高哌可酸血症与CHRS之间的联系提供了进一步证据。
