Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency.

  title={Hypersuccinylacetonaemia and normal liver function in maleylacetoacetate isomerase deficiency.},
  author={Hao Yang and Walla Al-Hertani and Denis Cyr and R Laframboise and Guy Parizeault and Shu Wang and Francis Rossignol and M T Berthier and Yves Gigu{\`e}re and Paula J. Waters and Grant A. Mitchell},
  journal={Journal of medical genetics},
  volume={54 4},
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 treatment with nitisinone (NTBC) plus dietary restriction of tyrosine and phenylalanine… CONTINUE READING
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