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Related to Hypertyrosinemia: tyrosinemia type 2
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Noun1.tyrosinemia - autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation
autosomal recessive defect, autosomal recessive disease - a disease caused by the presence of two recessive mutant genes on an autosome
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References in periodicals archive ?
Biochemically, patients typically have hypertyrosinemia and toxic metabolites.
Owing to the high prevalence of hypertyrosinemia in newborns, SUAC is the preferred marker for TYR1 in NBS programs.
Hypertyrosinemia and tyrosyluria are the most common findings, but hypermethioneima and increased excretion of ALA in the urine are occasionally detected, especially in the acute stage.