Tyrosinemia type 1

Common Name(s)

Tyrosinemia type 1, Fumarylacetoacetase deficiency, Hypertyrosinemia, Hepatorenal tyrosinemia

Tyrosinemia, type I (TYR I) is a rare, very serious genetic condition. TYR I results from a mutation or error in a person’s DNA or genes. Due to this mistake, people with TYR I have problems breaking down certain building blocks called amino acids properly. TYR I occurs when the body either does not make enough or makes non-working TYR I enzyme, fumarylacetoacetate hydrolase (FAH). Enzymes are special proteins that help break down the food we eat into the pieces our body can use for energy. If there is not enough working FAH, then the body cannot break down tyrosine. This causes high levels of tyrosine in the liver, kidneys and central nervous system, which become toxic and cause damage. High levels of tyrosine may be detected in the blood and urine.

Most babies with TYR I show signs at birth (acute form). Common symptoms of this condition may include diarrhea, bloody stool, vomiting, poor weight gain, developmental delays, tiredness, irritability, yellowing skin (jaundice), increased bleeding or bruising, swollen legs or abdomen, trouble breathing, and a “cabbage-like” smell. If untreated, babies with TYR I are at risk for life-threatening kidney and liver problems. Untreated babies with TYR I usually die before they reach 2 years old. Many of the complications can be prevented with early detection. Recommended treatment may include special diet, medication, and metabolic crisis prevention (this is important when a child is ill and unable to eat; prompt medical treatment is advised). Many babies are screened for TYR I at birth so that treatment can begin early, however the conditions included in newborn screening differ from state to state. For more information, visit http://www.babysfirsttest.org. TYR I is an autosomal recessive trait. A genetic counselor can help you understand the genetics. Talk with your baby doctor and specialists to decide on the best treatment plan. Support groups are also a good source of information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Tyrosinemia type 1" 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 type 1" 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 type 1" returned 15 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: 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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Chronic Phenotype Characterization of a Large-Animal Model of Hereditary Tyrosinemia Type 1.
 

Author(s): Faysal Elgilani, Shennen A Mao, Jaime M Glorioso, Meng Yin, Ianko D Iankov, Anisha Singh, Bruce Amiot, Piero Rinaldo, Ronald J Marler, Richard L Ehman, Markus Grompe, Joseph B Lillegard, Raymond D Hickey, Scott L Nyberg

Journal: Am. J. Pathol.. 2017 Jan;187(1):33-41.

 

Hereditary tyrosinemia type 1 (HT1) is an autosomal recessive disease caused by deficiency in fumarylacetoacetate hydrolase, the last enzyme in the tyrosine catabolic pathway. In this study, we investigated whether fumarylacetoacetate hydrolase deficient (FAH) pigs, a novel large-animal ...

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 type 1" returned 2 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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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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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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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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