tyrosinemia

tyrosinemia
/tuy'roh si nee"mee euh, tir'oh-/, n. Pathol.
an inherited disorder of tyrosine metabolism that can lead to liver and kidney disease and mental retardation unless controlled by a special diet.
[1960-65; TYROSINE + -EMIA]

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also called  Tyrosinosis,  

      inherited inability of the body to metabolize normally the amino acid tyrosine. In the normal metabolic pathway of tyrosine, para-(p-)hydroxyphenylpyruvic acid is converted to homogentisic acid (in the liver) by a specific organic catalyst or enzyme, called p-hydroxyphenylpyruvic acid oxidase. This enzyme is not active in individuals with tyrosinemia. Clinical features of the disease include an increase in concentration of tyrosine in the blood and urine, defects in kidney function, and replacement of liver cells with fibrous tissue. There may also be fewer circulating platelets in the blood than normal and an increased pigmentation of the skin. Affected children may develop a form of rickets that does not improve with administration of vitamin D. A diet low in tyrosine and phenylalanine, an amino acid that the body converts to tyrosine, helps keep tyrosinemia under control. This disorder is extremely rare; it is transmitted through a recessive gene.

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  • tyrosinemia II — tyrosinemia II. См. синдром Рихнера Ханхарта. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • tyrosinemia — tyrosinemia. См. тирозиноз. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • tyrosinemia II — tyrosinemia II. = Richner Hanhart syndrome (см.). (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) …   Молекулярная биология и генетика. Толковый словарь.

  • Tyrosinemia — Infobox Disease Name = PAGENAME Caption = Tyrosine DiseasesDB = 13478 DiseasesDB mult = DiseasesDB2|13486 DiseasesDB2|29836 ICD10 = ICD10|E|70|2|e|70 ICD9 = ICD9|270.2 ICDO = OMIM = 276700 OMIM mult = OMIM2|276600 OMIM2|276710 MedlinePlus =… …   Wikipedia

  • Tyrosinemia — A genetic metabolic disorder involving the amino acid tyrosine. The enzymatic basis of the disease is deficiency of an enzyme called fumarylacetoacetic hydrolase, the last enzyme in the tyrosine pathway. Tyrosinemia is inherited as an autosomal… …   Medical dictionary

  • Tyrosinemia type II — Classification and external resources Tyrosine ICD 10 E …   Wikipedia

  • tyrosinemia — noun A metabolic disorder characterized by the presence of excess tyrosine in the blood …   Wiktionary

  • tyrosinemia — noun autosomal recessive defect in tyrosine metabolism resulting in liver and kidney disturbances and mental retardation • Hypernyms: ↑autosomal recessive disease, ↑autosomal recessive defect * * * /tuy roh si nee mee euh, tir oh /, n. Pathol. an …   Useful english dictionary

  • tyrosinemia type I — an autosomal recessive disorder due to mutation in the FAH gene (locus: 15q23 q25), which encodes fumarylacetoacetase, an enzyme important in tyrosine catabolism. It is characterized by accumulation of succinylacetoacetate and succinylacetone,… …   Medical dictionary

  • tyrosinemia type II — a rare autosomal recessive disorder due to mutation in the TAT gene (locus: 16q22.1 q22.3), which encodes tyrosine transaminase, an enzyme important in tyrosine catabolism. Clinical characteristics include crystallization of the accumulated… …   Medical dictionary

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