There are 4 types of tyrosinemia, and knowing the difference between each type is the first step in helping tyrosinemia babies.
Symptoms of tyrosinemia are complex and vary among different types and patients, learn more here.
How can I be sure that my baby has tyrosinemia? Learn more here.
There are two main treatments for tyrosinemia type I: Nitisinone (NTBC) combined with a low-protein diet or liver transplantation. Tyrosinemia type I develops rapidly. Once diagnosed, NTBC treatment and low-protein diet should be started immediately under the guidance of a doctor (even if liver transplantation is required later). Time is life, and it is very important to allow children to receive medical or surgical treatment as soon as possible according to realistic conditions. Treatment and care is lifelong.
The mainstays of treatment for tyrosinemia type II include a low-protein diet, treatments for skin lesions such as vitamin supplementation, and therapy & training for neurodevelopmental problems. Treatment and care is lifelong.
The mainstays of treatment for tyrosinemia type III include a low-protein diet, therapy and training for neurodevelopmental problems.
Transient tyrosinemia is usually asymptomatic, and abnormalities in laboratory tests often resolve spontaneously after 2 months of age. Temporary low-protein diet and vitamin C treatment are sometimes employed.
Tyrosinemia types I, II, and III are autosomal recessive genetic diseases, and a healthy couple known to carry the relevant pathogenic mutations has a probability of about 1/4 of each childbirth.
In vitro fertilization (IVF) technology supports the screening of embryos before pregnancy to avoid induced abortion. However, there are certain requirements for relevant technical conditions, and also the age and health status of the couple.
Specialized genetic screening during pregnancy can also detect tyrosinemia of the fetus.
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