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

Presumptive brain influx of large neutral amino acids and the effect of phenylalanine supplementation in patients with Tyrosinemia type 1.
 

Author(s): Willem G van Ginkel, Danique van Vliet, Johannes G M Burgerhof, Pim de Blaauw, M Estela Rubio Gozalbo, M Rebecca Heiner-Fokkema, Francjan J van Spronsen

Journal:

 

Hereditary Tyrosinemia type 1 (HT1) is a rare metabolic disease caused by a defect in the tyrosine degradation pathway. Current treatment consists of 2-(2-nitro-4-trifluoromethylbenoyl)-1,3-cyclohexanedione (NTBC) and a tyrosine and phenylalanine restricted diet. Recently, neuropsychological ...

Last Updated: 26 Sep 2017

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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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Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma.
 

Author(s): Patrick R Blackburn, Raymond D Hickey, Rebecca A Nace, Nasra H Giama, Daniel L Kraft, Andrew J Bordner, Roongruedee Chaiteerakij, Jennifer B McCormick, Maja Radulovic, Rondell P Graham, Michael S Torbenson, Silvia Tortorelli, C Ronald Scott, Noralane M Lindor, Dawn S Milliner, Devin Oglesbee, Wafa'a Al-Qabandi, Markus Grompe, Dimitar K Gavrilov, Mounif El-Youssef, Karl J Clark, Paldeep S Atwal, Lewis R Roberts, Eric W Klee, Stephen C Ekker

Journal: Hum. Mutat.. 2016 Oct;37(10):1097-105.

 

Tyrosinemia type I (TYRSN1, TYR I) is caused by fumarylacetoacetate hydrolase (FAH) deficiency and affects approximately one in 100,000 individuals worldwide. Pathogenic variants in FAH cause TYRSN1, which induces cirrhosis and can progress to hepatocellular carcinoma (HCC). TYRSN1 ...

Last Updated: 14 Sep 2016

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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

Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1
 

Status: Recruiting

Condition Summary: Tyrosinemia Type 1; Tyrosinemias, Hereditary; Tyrosinosis; Hepatorenal Tyrosinemia; Fumarylacetoacetase Deficiency; FAH Deficiency

 

Last Updated: 13 Sep 2017

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