Tyrosinemia type 1

Common Name(s)

Tyrosinemia type 1, Hepatorenal tyrosinemia, Fumarylacetoacetase deficiency, Hypertyrosinemia

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.

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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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.

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 type 1" returned 10 free, full-text research articles on human participants. First 3 results:

Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy.
 

Author(s): Sarar Mohamed, Mohammed A Kambal, Nasir A Al Jurayyan, Abdulrahman Al-Nemri, Amir Babiker, Rana Hasanato, Abdullah S Al-Jarallah

Journal:

 

Tyrosinemia type 1 (TT1) is an autosomal recessive disorder caused by deficiency of the enzyme fumarylacetoacetate hydrolase (FAH). TT1 usually presents in infancy with features suggestive of liver disease or with sepsis-like symptoms.

Last Updated: 15 Nov 2013

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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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Simple and fast quantification of nitisone (NTBC) using liquid chromatography-tandem mass spectrometry method in plasma of tyrosinemia type 1 patients.
 

Author(s): Anne Davit-Spraul, Houda Romdhane, Joséphine Poggi-Bach

Journal: J Chromatogr Sci. 2012 May;50(5):446-9.

 

Tyrosinemia type 1, which is caused by a deficiency in fumarylacetoacetate hydrolase, is successfully treatable with nitisone (NTBC), an inhibitor of 4-hydroxyphenyl pyruvate dioxygenase. The recommended average dose of NTBC is 1 mg/kg per day. A rapid liquid chromatography (LC) coupled ...

Last Updated: 18 Apr 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 type 1" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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: 16 Dec 2014

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Study of NTBC for Tyrosinemia I
 

Status: Recruiting

Condition Summary: Tyrosinemia I

 

Last Updated: 23 Jun 2005

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