Tyrosinemia

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 =
eMedicineSubj = ped
eMedicineTopic = 2339
MeshID = D020176

Tyrosinemia (or "Tyrosinaemia") is an error of metabolism, usually inborn, in which the body cannot effectively break down the amino acid tyrosine. Symptoms include liver and kidney disturbances and mental retardation.

Types

There are three types of tyrosinemia, each with distinctive symptoms and caused by the deficiency of a different enzyme.

* Type I tyrosinemia
* Type II tyrosinemia
* Type III tyrosinemia

Treatment

Treatment varies depending on the specific type. A low protein diet may be required in the management of tyrosinemia. Recent experience with NTBC has shown to be very effective. The most effective treatment in patients with tyrosinemia type I seems to be full or partial liver transplant.

ee also

* Alkaptonuria
* Ochronosis
* Inborn error of metabolism

Notes

For a thorough scientific overview of tyrosinemia, consult chapter 79 of OMMBID. [
Charles Scriver, Beaudet, A.L., Valle, D., Sly, W.S., Vogelstein, B., Childs, B., Kinzler, K.W. (Accessed 2007). [http://www.ommbid.com The Online Metabolic and Molecular Bases of Inherited Disease.] New York: McGraw-Hill. - See also the [http://books.mcgraw-hill.com/medical/ommbid/blog/ OMMBID blog] .
]

External links

* [http://depts.washington.edu/tyros/abouttyr.htm University of Washington]
* [http://www.liverfamilies.net Pediatric Liver support group]
* MSN tyrosinemia group * [http://groups.msn.com/tyrosinemia]

References


Wikimedia Foundation. 2010.

Игры ⚽ Нужно сделать НИР?

Look at other dictionaries:

  • 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 — 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 — /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] * * * ▪ pathology also… …   Universalium

  • 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

Share the article and excerpts

Direct link
Do a right-click on the link above
and select “Copy Link”