Tyrosiinihäviöt

Tyrosiinihäviöt, also known as tyrosinemia, is a rare metabolic disorder that affects the body's ability to process the amino acid tyrosine. This leads to a buildup of tyrosine and its byproducts in the blood and urine. There are several types of tyrosinemia, with tyrosinemia type I being the most severe.

The symptoms of tyrosinemia can vary depending on the type and severity. In tyrosinemia type I, symptoms often appear in infancy and can include failure to thrive, vomiting, diarrhea, jaundice, and an enlarged liver. Over time, it can lead to liver damage, kidney problems, and neurological issues. Tyrosinemia type II typically presents with skin lesions and eye problems, while tyrosinemia type III is less common and can cause intellectual disability.

Tyrosinemia is caused by genetic mutations that impair the function of specific enzymes involved in tyrosine metabolism. It is an autosomal recessive condition, meaning an individual must inherit two copies of the mutated gene, one from each parent, to develop the disorder.

Diagnosis is usually made through newborn screening or by measuring tyrosine levels in the blood and urine. Genetic testing can confirm the diagnosis and identify the specific type of tyrosinemia.

Treatment for tyrosinemia primarily involves a lifelong diet low in tyrosine and its precursor, phenylalanine. Medications may also be used to manage specific symptoms or complications. In severe cases of liver damage, a liver transplant may be necessary. Early diagnosis and consistent management are crucial for improving outcomes and preventing serious health problems.