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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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It has become clear, however, that tyrosine alone is an inadequate marker for screening of Tyr-I because tyrosine measurement lacks specificity and cannot distinguish Tyr-I from other disorders in tyrosine catabolism and transient hypertyrosinemia (10, 11).
However, hypertyrosinemia is neither a sensitive nor a specific marker for TYR 1 and most often is associated with common and benign transient tyrosinemia of the newborn.