| 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. |
