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.

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: 2 Mar 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

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: 2 Mar 2013

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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:

Behavioral and intellectual functioning in patients with tyrosinemia type I.
 

Author(s): Monika Pohorecka, Marta Biernacka, Anna Jakubowska-Winecka, Marcin Biernacki, Katarzyna Kuśmierska, Agnieszka Kowalik, Jolanta Sykut-Cegielska

Journal: Pediatr Endocrinol Diabetes Metab. 2012 ;18(3):96-100.

 

In tyrosinemia type I (TT1) increased level of tyrosine and phenylalanine (both precursors of neurotransmitters), may potentially influence patients' cognitive development.

Last Updated: 13 Nov 2012

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Compound mutations (R237X and L375P) in the fumarylacetoacetate hydrolase gene causing tyrosinemia type I in a Chinese patient.
 

Author(s): Yan-Yan Cao, Yan-Ling Zhang, Juan DU, Yu-Jin Qu, Xue-Mei Zhong, Jin-Li Bai, Fang Song

Journal: Chin. Med. J.. 2012 Jun;125(12):2132-6.

 

Mutations in fumarylacetoacetate hydrolase (FAH) gene can lead to tyrosinemia type 1 (HT1), a relatively rare autosomal recessive disorder. To date, no molecular genetic defects of HT1 in China have been described. We investigated a Chinese family with a HT1 child to identify mutations in FAH.

Last Updated: 13 Aug 2012

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[Clinical follow up of Chilean patients with tyrosinemia type 1 treated with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-ciclohexanedione (NTBC)].
 

Author(s): Erna Raimann, Verónica Cornejo, Carolina Arias, Juan Francisco Cabello, Gabriela Castro, Eloina Fernández, Alicia de la Parra

Journal: Rev Med Chil. 2012 Feb;140(2):169-75.

 

Tyrosinemia type I is an inborn error of metabolism due to deficiency of fumarilacetoacetase. Acute presentation is with liver failure, hypophosphatemic rickets and peripheral neuropathy. Chronic presentation is with visceromegaly and subclinical rickets. The most severe complications ...

Last Updated: 28 Jun 2012

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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.

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Study of NTBC for Tyrosinemia I
 

Status: Recruiting

Condition Summary: Tyrosinemia I

 

Last Updated: 23 Jun 2005

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