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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General Support Organizations

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

Fumarylacetoacetate Hydrolase Knock-out Rabbit Model for Hereditary Tyrosinemia Type 1.
 

Author(s): Li Li, Quanjun Zhang, Huaqiang Yang, Qingjian Zou, Chengdan Lai, Fei Jiang, Ping Zhao, Zhiwei Luo, Jiayin Yang, Qian Chen, Yan Wang, Philip N Newsome, Jon Frampton, Patrick H Maxwell, Wenjuan Li, Shuhan Chen, Dongye Wang, Tak-Shing Siu, Sidney Tam, Hung-Fat Tse, Baoming Qin, Xichen Bao, Miguel A Esteban, Liangxue Lai

Journal: J. Biol. Chem.. 2017 Mar;292(11):4755-4763.

 

Hereditary tyrosinemia type 1 (HT1) is a severe human autosomal recessive disorder caused by the deficiency of fumarylacetoacetate hydroxylase (FAH), an enzyme catalyzing the last step in the tyrosine degradation pathway. Lack of FAH causes accumulation of toxic metabolites (fumarylacetoacetate ...

Last Updated: 5 Jan 2017

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Clinical and Biochemical Profile of Tyrosinemia Type 1 in Tunisia.
 

Author(s): Fahmi Nasrallah, Mohamed Bessem Hammami, Hanen Ben Rhouma, Sondes Hadj Fradj, Hatem Azzouz, Souheil Omar, Moncef Feki, Ilhem Turki Ben Youssef, Taieb Messaoud, Neji Tebib, Naziha Kaabachi

Journal: Clin. Lab.. 2015 ;61(5-6):487-92.

 

Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive disease caused by a defect of fumarylacetoacetate hydrolase. This study aimed to estimate the prevalence of HT1 in Tunisia and report its clinical, biochemical and genetic features.

Last Updated: 29 Jun 2015

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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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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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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.