Tyrosinemia – symptoms, causes and treatment

Tyrosinemia is a rare metabolic disease that can have serious consequences for patients’ health. In this article, we will discuss what tyrosinemia is, what symptoms it can cause, its causes and available treatments.

Tyrosinemia – what is it? what symptoms does it cause?

Tyrosinemia is a group of rare metabolic diseases characterized by a disorder of the metabolism of the amino acid tyrosine. There are different types of tyrosinemia, but they all have a common feature – an excess of tyrosine and its metabolites in the blood.

Symptoms of tyrosinemia can be diverse and occur in both infants and older children. The most common symptoms are:

• Liver problems such as hepatomegaly (enlarged liver).
• Increased susceptibility to infections.
• Neurological problems such as seizures, delayed psychomotor development, learning difficulties.
• Petechiae and eye problems.

Tyrosinemia type i and ii (richner-hanhart syndrome)

There are several types of tyrosinemia, the most important of which are type I and type II, also called Richner-Hanhart syndrome. Type I tyrosinemia is more serious and leads to the build-up of toxic substances that can damage the liver and other organs. Type II tyrosinemia is milder, but can lead to vision problems.

Tyrosinemia – causes

The cause of tyrosinemia is a genetic defect that causes a deficiency of enzymes responsible for the breakdown of tyrosine. Depending on the type of tyrosinemia, it may be a deficiency of the enzyme fumarylacetoacetate hydrolase (type I) or a deficiency of the enzyme tyrosinase (type II).

The disease is inherited in an autosomal recessive manner, which means that for a child to get the disease, he or she must inherit one defective gene from both parents, who are usually carriers of the disease but do not show symptoms.

Tyrosinemia – treatment

Treatment of tyrosinemia is complicated and requires strict diet control and the use of medications. The most important element of treatment is limiting the consumption of tyrosine and other amino acids, which require enzymes that are missing in patients’ bodies.

In some cases, especially type I tyrosinemia, liver transplantation may be necessary to prevent organ damage and complications related to the disease.

Your suggestions

If you suspect that you or your child has tyrosinemia, consult a doctor who specializes in metabolic genetics immediately. Diagnosis and treatment of this disease should be carried out under the supervision of experienced specialists.

Recommended articles

If you want to learn more about tyrosinemia, check out the following articles:

• “Tyrosinemia – how to live with this rare metabolic disease?”
• “Diet for tyrosinemia – what can you eat and what should you avoid?”
• “Liver transplantation in the treatment of tyrosinemia – when is it necessary?”

It is worth investing in education and awareness about tyrosinemia to provide the best possible care for patients and improve their quality of life.