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The Enzymatic Deficiency in Tyrosinemia
Archives of Pediatrics & Adolescent Medicine, 1967SOME time ago I reviewed the literature on tyrosinosis to write a chapter on this subject. 1 This required careful restudy of the classic investigations by Dr. Grace Medes in 1927 of a metabolic disorder of tyrosine metabolism, which she named, tyrosinosis.
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TRANSIENT TYROSINEMIA OF THE NEWBORN
Nutrition Reviews, 2009A benign affair, dependent on hepatic immaturity and the dietary protein load.
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Tyrosinemia: The Quebec experience
Early Human Development, 1997Tyrosinemia, a genetic disorder of the liver and kidneys, is caused by reduced activity of fumarylacetoacetate hydrolase (FAH), the final enzyme in the degradation of tyrosine. The consequent presence of succinylacetone in urine or blood is pathognomonic of tyrosinemia and is used as a confirmatory test in the Quebec neonaral screening program.
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