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

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.

• Authors: C H Hocart, B Halpern, L A Hick, C O Wong
• Journal: Journal of chromatography (J Chromatogr) Vol. 275 Issue 2 Pg. 237-43 (Jul 08 1983) Netherlands
• PMID: 6619234 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Amino Acids, Sulfur
• Cyclohexenes
• Pyrrolidinones
• Quinones
• quinolacetic acid
• hawkinsin
• Pyrrolidonecarboxylic Acid

Topics

• Acidosis (urine)
• Amino Acid Metabolism, Inborn Errors (urine)
• Amino Acids, Sulfur (urine)
• Australia
• Cyclohexenes
• Gas Chromatography-Mass Spectrometry
• Humans
• Infant
• Pyrrolidinones (urine)
• Pyrrolidonecarboxylic Acid (urine)
• Quinones (urine)