霍金斯尿症——酸中毒期喹啉乙酸和焦谷氨酸的鉴定

Hawkinsinuria--identification of quinolacetic acid and pyroglutamic acid during an acidotic phase.

作者信息

Hocart C H, Halpern B, Hick L A, Wong C O

出版信息

J Chromatogr. 1983 Jul 8;275(2):237-43. doi: 10.1016/s0378-4347(00)84371-6.

PMID:6619234

Abstract

A second Australian family with the genetic disease Hawkinsinuria has been identified. Affected members excrete hawkinsin and cis- and trans-4-hydroxycyclohexylacetic acid. An infant in this family presented with metabolic acidosis and excreted quinolacetic acid and pyroglutamic acid in the urine together with the tyrosine derived phenolic acids reported in the original index case. It is thought that quinolacetic acid is accumulated as a by-product of the partially defective enzyme, 4-hydroxyphenylpyruvate dioxygenase (EC 1.13.11.27) and that pyroglutamic acid indicated lowered glutathione levels.

摘要

已经确认了第二个患有遗传性疾病霍金斯尿症的澳大利亚家庭。患病成员排泄出霍金斯酸以及顺式和反式4-羟基环己基乙酸。这个家庭中的一名婴儿出现代谢性酸中毒，尿液中排泄出喹啉乙酸和焦谷氨酸，以及原始索引病例中报告的酪氨酸衍生酚酸。据认为，喹啉乙酸是部分缺陷酶4-羟基苯丙酮酸双加氧酶（EC 1.13.11.27）的副产物而积累，并且焦谷氨酸表明谷胱甘肽水平降低。