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Tyrosinemia Type 1 is an Amino Acid Disorder
People with Tyrosinemia Type 1 have problems breaking down an amino acid called tyrosine from the food they eat. If not treated, the condition causes severe liver disease and other serious health problems. Approximately one in every 100,000 babies in the United Kingdom is born with this condition.
Tyrosinemia Type 1 is also known as:
- Hereditary Infantile Tyrosinemia
- Hepatorenal Tyrosinemia
- Fumarylacetoacetase deficiency
- Fumarylacetoacetate hydrolase deficiency
- FAH deficiency
- Hereditary Tyrosinemia Type 1
Dr Pat McKiernan, Consultant Paediatrician in Birmingham Childrens Liver Unit has recently updated an article which he produced for the dissemination to families in a Climb Update more..
The updated version is also availabe in pdf format here..
New Leaflet An Introduction to Tyrosinemia - The leaflet is in PDF format here.
Tyrosinemia Low Protein Foods - more..
Tyrosinemia Low Protein Special Foods (non PKU) - more..
Types of Tyrosinemai here
Amino acid disorders are a group of rare inherited metabolic conditions. They are caused by enzymes that are not working properly
Protein is made up of smaller building blocks called amino acids. A number of different enzymes are needed to process these amino acids for use by the body but due to the missing or non-working enzymes people with amino acid disorders cannot process certain amino acids. These amino acids, along with other toxic substances, then build up in the body and cause problems. The symptoms and treatment vary between different amino acid disorders. They can also vary from person to person with the same amino acid disorder.
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