Article
Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency.
Journal of medical genetics - 1 Apr 2017
Yang Hao, Al-Hertani Walla, Cyr Denis, Laframboise Rachel, Parizeault Guy, Wang Shu Pei, Rossignol Francis, Berthier Marie-Thérèse, Giguère Yves, Waters Paula J, Mitchell Grant A
Abstract excerpt
BACKGROUND: A high level of succinylacetone (SA) in blood is a sensitive, specific newborn screening marker for hepatorenal tyrosinemia type 1 (HT1, MIM 276700) caused by deficiency of fumarylacetoacetate hydrolase (FAH). Newborns with HT1 are usually clinically asymptomatic but show liver dysfunction with coagulation abnormalities (prolonged prothrombin time and/or high international normalised ratio). Early...
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