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

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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.

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 61 free, full-text research articles on human participants. First 3 results:

Tyrosinemia type I: clinical and biochemical analysis of patients in Mexico.
 

Author(s): Cynthia Fernández-Lainez, Isabel Ibarra-González, Leticia Belmont-Martínez, Susana Monroy-Santoyo, Sara Guillén-López, Marcela Vela-Amieva

Journal: Ann Hepatol. ;13(2):265-72.

 

Hepatorenal tyrosinemia (HT1) is a treatable, inherited, metabolic disease characterized by progressive liver failure with pronounced coagulopathy. The aim of this study is to describe the clinical, biochemical, and histopathological findings in a group of Mexican HT1 patients and their outcome.

Last Updated: 20 Feb 2014

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Impaired cognitive functioning in patients with tyrosinemia type I receiving nitisinone.
 

Author(s): Fatiha Bendadi, Tom J de Koning, Gepke Visser, Hubertus C M T Prinsen, Monique G M de Sain, Nanda Verhoeven-Duif, Gerben Sinnema, Francjan J van Spronsen, Peter M van Hasselt

Journal: J. Pediatr.. 2014 Feb;164(2):398-401.

 

To examine cognitive functioning in patients with tyrosinemia type I treated with nitisinone and a protein-restricted diet.

Last Updated: 27 Jan 2014

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Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy.
 

Author(s): Sarar Mohamed, Mohammed A Kambal, Nasir A Al Jurayyan, Abdulrahman Al-Nemri, Amir Babiker, Rana Hasanato, Abdullah S Al-Jarallah

Journal:

 

Tyrosinemia type 1 (TT1) is an autosomal recessive disorder caused by deficiency of the enzyme fumarylacetoacetate hydrolase (FAH). TT1 usually presents in infancy with features suggestive of liver disease or with sepsis-like symptoms.

Last Updated: 15 Nov 2013

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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 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

Efficacy and Safety of Once Daily Dosing Compared to Twice Daily Dosing of Nitisinone in HT-1
 

Status: Recruiting

Condition Summary: Hereditary Tyrosinemia, Type I

 

Last Updated: 11 Aug 2015

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