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

Photophobia accompanied by painful plantar punctate hyperkeratotic patches: Tyrosinemia type 2.
 

Author(s): Ajay Anand Mohite, Joseph Abbott

Journal: Indian J Ophthalmol. 2018 Mar;66(3):449.

 

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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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 03;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: 31 Dec 1969

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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 6 free, full-text review articles on human participants. First 3 results:

Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review.
 

Author(s): Julia Geppert, Chris Stinton, Karoline Freeman, Hannah Fraser, Aileen Clarke, Samantha Johnson, Paul Sutcliffe, Sian Taylor-Phillips

Journal:

 

Tyrosinemia type 1 (TYR1) is a rare autosomal recessive disorder of amino acid metabolism that is fatal without treatment. With medication (nitisinone) and dietary restrictions outcomes are improved. We conducted a systematic review to investigate if treatment with nitisinone following ...

Last Updated: 31 Dec 1969

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Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.
 

Author(s): Jeffrey M Chinsky, Rani Singh, Can Ficicioglu, Clara D M van Karnebeek, Markus Grompe, Grant Mitchell, Susan E Waisbren, Muge Gucsavas-Calikoglu, Melissa P Wasserstein, Katie Coakley, C Ronald Scott

Journal: Genet. Med.. 2017 12;19(12):.

 

Tyrosinemia type I (hepatorenal tyrosinemia, HT-1) is an autosomal recessive condition resulting in hepatic failure with comorbidities involving the renal and neurologic systems and long term risks for hepatocellular carcinoma. An effective medical treatment with 2-[2-nitro-4-trifluoromethylbenzoyl]-1,3-cyclohexanedione ...

Last Updated: 31 Dec 1969

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Newborn screening for Tyrosinemia type 1 using succinylacetone - a systematic review of test accuracy.
 

Author(s): Chris Stinton, Julia Geppert, Karoline Freeman, Aileen Clarke, Samantha Johnson, Hannah Fraser, Paul Sutcliffe, Sian Taylor-Phillips

Journal:

 

Tyrosinemia type 1 is an autosomal recessive disorder of amino acid metabolism. Without treatment, death in childhood is common. Treatment with nitisinone and dietary restrictions are associated with improved outcomes; some studies suggest better outcomes when treatment begins at ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Hereditary Hepatorenal Tyrosinemia Natural History in Egypt and the Arab World (Multicenter Clinical Study)
 

Status: Recruiting

Condition Summary: Hereditary Tyrosinemia, Type I

 

Last Updated: 25 Jun 2018

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Long Term Safety Study of Orfadin Treatment in HT-1 Patients in Standard Clinical Care
 

Status: Recruiting

Condition Summary: Hereditary Tyrosinemia, Type I

 

Last Updated: 24 Jun 2018

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Biomarker for the Early Diagnosis and Monitoring in Tyrosinemia Type 1
 

Status: Not yet recruiting

Condition Summary: Tyrosinosis; Hepatorenal Tyrosinemia; Fumarylacetoacetase Deficiency; Fah Deficiency; Metabolic Disorders

 

Last Updated: 27 Aug 2018

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