What is Tyrosinemia?

Tyrosinemia is a genetic disorder characterized by disruptions in the multistep process that breaks down the amino acid tyrosine, a building block of most proteins. Most humans have an enzyme called Fumarylacetoacetate hydrolase or FAH which breaks down tyrosine, but patients with tyrosinemia has enzyme deficiency. After protein intake, tyrosine will accumulate in the blood and converted into harmful substances, namely succinylacetone, which cause disorders in the kidney, liver, and central nervous system. If untreated, tyrosine and its byproducts build up in tissues and organs, which can lead to serious health problems.

 

How rare is tyrosinemia?

Tyrosinemia is a rare genetic disorder. About one person in 100,000 is affected with tyrosinemia globally. Both male and female can be affected by this disease.


 

What are the symptoms of tyrosinemia?

After birth, infants with tyrosinemia usually show no symptoms. Symptoms begin to emerge after the first few months of life. Common symptoms include poor weight gain, fussiness, fever, diarrhea, vomiting, enlarged liver, yellow, bruises on the skin, and bleeding. If left untreated, tyrosinemia will lead to liver failure and eventually death.

 

How to treat tyrosinemia?

This disease can be treated by maintaining tyrosine levels in the blood with diet and drugs. People with tyrosinemia need a special diet that takes into account the amount of tyrosine and phenylalanine that enter the body.


Infants who have been diagnosed with tyrosinemia will get a special formula milk that is free from tyrosine and phenylalanine. Certain breast milk is added to a special diet to meet tyrosine and phenylalanine requirements. Now, there is a drug available, called Nitisinone, which can inhibit the breakdown of tyrosine into toxic substances. This drug is used while maintaining a special low-tyrosine diet.

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