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Pathway Description
Tyrosinemia, Transient, of the Newborn
Homo sapiens
Disease Pathway
Created: 2013-08-29
Last Updated: 2022-10-27
A transient defect in tyrosine metabolism is a common aminoacidopathy in the premature and full-term human infant. This disorder, termed neonatal tyrosinemia, was first described by Levine and Gordon in 1939. In the intervening years other workers have studied this disorder, and have noted the concurrence of tyrosinemia and tyrosyluria. In a current survey of 15,000 infants, 6 mild tyrosinemia occurred during the first week of life in 10% of full-term infants, and severe tyrosinemia occurred in approximately 30% of premature infants. The enzymatic basis of neonatal tyrosinemia is complex and involves the susceptibility of p-hydroxyphenylpyruvic acid oxidase to inhibition in the presence of its substrate, p-hydroxyphenylpyruvic acid and derivatives. The inhibition is reversible by removal of excess substrate and by reducing agents such as ascorbic acid, 2, 6-dichiorophenolindophenol, and a number of hydroquinone and phenylenediamine compounds.
References
Tyrosinemia, Transient, of the Newborn References
[Metagen: TYROSINEMIA, TRANSIENT, OF THE NEWBORN](http://metagene.de/program/d.prg?id_d=318)
[OMIM: 276710](http://omim.org/entry/276710})
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