tyrosinemia (redirected from Tyrosinemia I)

tyrosinemia /ty·ro·sin·e·mia/ (ti?ro-si-ne´me-ah) an aminoacidopathy of tyrosine metabolism with elevated blood levels of tyrosine and urinary excretion of tyrosine and related metabolites. Type I shows inhibition of some liver enzymes and renal tubular function. Type II is marked by crystallization of the accumulated tyrosine in the epidermis and cornea and is frequently accompanied by mental retardation. Neonatal t. is asymptomatic, transitory, and may result in mild mental retardation. The fourth type is hawkinsinuria .

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ty·ro·si·ne·mi·a (tr-s-nm-)

n.

An inherited disorder of tyrosine metabolism marked by an increase in the concentration of tyrosine in the blood, an increase in urinary excretion of tyrosine and related compounds, hepatosplenomegaly, nodular cirrhosis of the liver, multiple renal tubular reabsorptive defects, and vitamin D-resistant rickets.

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tyrosinemia (tī´rōsinē´mē),

n a genetic disorder of amino acid metabolism in which tyrosine acid accumulates in the blood and urine at abnormally high levels; seen primarily in infants born prematurely; may respond to a low-protein diet and the administration of synthetic amino acids.

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tyrosinemia

an excess of tyrosine in the blood. Several different types with varying clinical features occur in humans. A syndrome of dermatitis and keratoconjunctivitis resembling tyrosinemia type II of humans (Richner-Hanhart syndrome) occurs in rats fed a diet high in tyrosine, in mink as an inherited disorder (called also pseudodistemper) and it has been reported in a dog.