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A very rare, possibly heritable disorder of tyrosine metabolism that may be caused by defective formation of p-hydroxyphenylpyruvic acid oxidase or of tyrosine transaminase; characterized by enhanced urinary excretion of p-hydroxyphenylpyruvic acid and of other tyrosyl metabolites upon ingestion of tyrosine or proteins containing that amino acid; of autosomal recessive inheritance.
[tyrosine + G. -osis, condition]
Etymology: Gk, tyros + osis, condition
a rare condition resulting from a defect in amino acid metabolism and transmitted as an autosomal-recessive trait. It is characterized by the excretion of an excessive amount of parahydroxyphenylpyruvic acid, an intermediate product of tyrosine, in the urine. There is no known treatment. See also tyrosinemia.
tyrosinosisA condition attributed to faulty tyrosine metabolism, in which parahydroxyphenyl pyruvic acid, an intermediate product, appears in the urine.
The only patient with this condition was reported by G Medes in 1932. Because of the uncertainly whether Medes’s patient had a disease a sui generis, tyrosinosis has become a synonym for tyrosinemia type I, MIM 276700; given its nonspecificity, tyrosinosis may also be applied to both tyrosinemia type II (Richner-Hanhart syndrome), MIM 276600, and tyrosinemia type III, MIM 276710.
tyrosinosisA genetic disorder featuring excessive levels of TYROSINE, methionine and other amino acids in the blood. There is liver and kidney damage and a form of RICKETS that does not respond to treatment with vitamin D. Death may occur in infancy from liver failure. Liver transplantation is curative.
a condition characterized by a faulty metabolism of tyrosine in which an intermediate product, parahydroxyphenyl pyruvic acid, appears in the urine and gives it an abnormal reducing power.