Tyrosinemia type I is a genetic disorder due to a defect in the metabolism of the amino acid tyrosine. It is characterized by elevated levels of the amino acid tyrosine in the blood. Symptoms include diarrhea, vomiting, jaundice, failure to thrive and nosebleeds and usually appear during the first few months of life. Tyrosinemia type I can lead to serious damage of the liver, kidney and nervous system as well as an increased risk of liver cancer. The treatment entails a combination of special diet and medication with nitisinone (NTBC). The incidence of the condition in Germany is about 1 per 135,000 newborns. It is inherited in an autosomal recessive manner.
On October 19th 2017, the Joint Federal Committee (G-BA) advocated for the introduction of newborn screening for Type I tyrosinemia using tandem mass spectrometry as a benefit into the German statutory health insurance (SHI). It made a normative decision to add the condition to the list of screenings in the guideline for the early detection of diseases in children.
The guideline for the early detection of diseases in children includes a list of diseases or medical conditions for screening in newborns (§17). The G-BA suggests adding tyrosinemia type I as point 13 on this list and to specify tandem mass spectrometry as the adequate screening method. Treatments and preventive methods included in the guideline are part of the German statutory health insurance and must be reimbursed by the Sickness Funds. The decision was made by the committee of the G-BA that is in charge of method evaluations in the statutory health insurance (SHI) in Germany.
The change will come into effect with the announcement in the Federal Law Gazette. Before this, the Genetic Diagnostics Commission (GEKO) must give written approval of the change of the guideline. This is a regulation by the German Genetic Diagnostics Act (Gendiagnostikgesetz). A patient organization initiated the review process by the G-BA.
The decision by the G-BA and the guideline for the early detection of diseases in children are available in German here.
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