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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]
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.