tyrosinosis


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ty·ro·si·no·sis

(tī'rō-si-nō'sis), [MIM*276800]
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]

tyrosinosis

A 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.

tyrosinosis

A 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.
References in periodicals archive ?
After reading Medes's pioneering 1932 study, (3) we were inspired to publish our report as an atypical case of tyrosinosis. As no other cases resembling Medes's have emerged as far as we are aware, our case appears to be the first report of a typical HRT patient.
Halvorsen in Norway organized a symposium on tyrosinosis in honour of Dr.
Sakai, Kitagawa and Yoshioka investigated a single Japanese patient with "tyrosinosis" and described practically everything we have to say today.
(1932) A new error of tyrosine metabolism, tyrosinosis. The intermediary metabolism of tyrosine and phenylalanine.
(1957) An atypical case of tyrosinosis (l-para-hydroxyphenyllactic aciduria) Part 1.
(1965) Studies on tyrosinosis: 2, activity of the transaminase, parahydroxy-phenylpyruvate oxidase, and homogentisic-acid oxidase.
(1965) Hyper methioninemia in acute tyrosinosis. Lancet II, 1132-1133.