Screenin+and+PKU

= __//** Screening and Phenylketonuria (PKU) **//__ =

last condition, tyrosinemia type

what is tyrosinemia type?

This condition is one type of **amino acid disorder**. People with tyrosinemia 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.


 * amino acid disorder:**

Amino acid disorders (AAs) are a group of rare inherited conditions. They are caused by enzymes that do not work 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. Because of 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. See the fact sheets for each specific amino acid disorder.

Amino acid disorders are inherited in an [|autosomal recessive] manner and affect both males and female

In order for the body to use protein from the food we eat, it is broken down into smaller parts called amino acids. Special enzymes then make changes to the amino acids so the body can use them.

Tyrosinemia 1 occurs when an enzyme, called fumarylacetoacetase (FAH), is either missing or not working properly. When FAH is not working, it cannot break down tyrosine. Tyrosine and other harmful substances then build up in the blood. One of these substances is called succinylacetone. When it builds up in the blood, it causes serious liver and kidney damage. It may also cause episodes of weakness or pain.