tyrosinosis

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.

单词	tyrosinosis
释义	tyrosinosis tyrosinosis [‚tir·ə·sə′nō·səs] (medicine) Excretion of excessive amounts of tyrosine and its first oxidation products in the urine. tyrosinosis ty·ro·si·no·sis (tī'rō-si-nō'sis), [MIM276800] 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.
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