Tyrosinemia

Common Name(s)

Tyrosinemia

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Tyrosinemia" for support, advocacy or research.

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CLIMB - Children Living with Inherited Metabolic Diseases

Climb is committed to fighting metabolic diseases through research, awareness and support. We are the UK's only dedicated organisation to provide advice, information and support on all metabolic diseases to children, young adults, families, carers and professionals.

Last Updated: 28 Jul 2015

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Intermountain PKU and Allied Disorders Association

The mission of the Intermountain PKU and Allied Disorders Association is to provide education and resources to individuals and families, to encourage research, and to increase public awareness of these conditions.

Last Updated: 29 May 2015

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Tyrosinemia" for support, advocacy or research.

Logo
CLIMB - Children Living with Inherited Metabolic Diseases

Climb is committed to fighting metabolic diseases through research, awareness and support. We are the UK's only dedicated organisation to provide advice, information and support on all metabolic diseases to children, young adults, families, carers and professionals.

http://www.climb.org.uk/

Last Updated: 28 Jul 2015

View Details
Intermountain PKU and Allied Disorders Association

The mission of the Intermountain PKU and Allied Disorders Association is to provide education and resources to individuals and families, to encourage research, and to increase public awareness of these conditions.

http://www.go-ipad.org

Last Updated: 29 May 2015

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Tyrosinemia" returned 69 free, full-text research articles on human participants. First 3 results:

Oculocutaneous tyrosinemia: A case report with delayed diagnosis and excellent response to dietary modification.
 

Author(s): Burak Tekin, Deniz Yucelten, Cigdem A Zeybek, Ertugrul Kiykim, Maria Wehner, Regina C Betz, Ayse E Toker

Journal: Indian J Dermatol Venereol Leprol. ;81(3):303-5.

 

Last Updated: 7 May 2015

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Hepatocellular carcinoma in tyrosinemia type 1 without clear increase of AFP.
 

Author(s): Willem G van Ginkel, Annette S H Gouw, Eric J van der Jagt, Koert P de Jong, Henkjan J Verkade, Francjan J van Spronsen

Journal: Pediatrics. 2015 Mar;135(3):e749-52.

 

Patients with hereditary tyrosinemia type 1 have an elevated risk of developing hepatocellular carcinoma, especially if initiation of treatment with 2-(2-nitro-4-trifluoro-methylbenzoyl)-1,3-cyclohexanedione is delayed. Hepatocellular carcinoma can usually be suspected when there ...

Last Updated: 3 Mar 2015

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Succinylacetone as primary marker to detect tyrosinemia type I in newborns and its measurement by newborn screening programs.
 

Author(s): Víctor R De Jesús, Barbara W Adam, Daniel Mandel, Carla D Cuthbert, Dietrich Matern

Journal: Mol. Genet. Metab.. ;113(1-2):67-75.

 

Tyrosinemia type I (TYR I) is caused by autosomal recessive fumarylacetoacetate hydrolase deficiency and is characterized by development of severe liver disease in infancy and neurologic crises. If left untreated, most patients die of liver failure in the first years of life. Intervention ...

Last Updated: 27 Sep 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Tyrosinemia" returned 3 free, full-text review articles on human participants. First 3 results:

Hepatorenal tyrosinemia.
 

Author(s): Teruo Kitagawa

Journal: Proc. Jpn. Acad., Ser. B, Phys. Biol. Sci.. 2012 ;88(5):192-200.

 

In 1957 Sakai and Kitagawa in Japan reported the clinical and biochemical findings in a patient with tyrosinemia, tyrosyluria, liver cirrhosis, and renal rickets. Subsequently, reports were published from various countries of other patients with hepatorenal tyrosinemia (HRT). 4-Hydroxyphenylpyruvate ...

Last Updated: 12 Jun 2012

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[Hereditary tyrosinemia: an endoplasmic reticulum stress disorder?].
 

Author(s): Anne Bergeron, Rossana Jorquera, Robert M Tanguay

Journal: Med Sci (Paris). 2003 Oct;19(10):976-80.

 

Hereditary tyrosinemia type 1 (HT1) is the most severe metabolic disease associated with tyrosine catabolism. An accumulation of toxic metabolites seems responsible for the pathology of HT1. The metabolite fumarylacetoacetate, accumulating due to a deficiency in fumarylacetoacetate ...

Last Updated: 12 Nov 2003

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Changing concepts: liver replacement for hereditary tyrosinemia and hepatoma.
 

Author(s): T E Starzl, B J Zitelli, B W Shaw, S Iwatsuki, J C Gartner, R D Gordon, J J Malatuck, I J Fox, A H Urbach, D H Van Thiel

Journal: J. Pediatr.. 1985 Apr;106(4):604-6.

 

Last Updated: 13 May 1985

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.