How Accurate Is Screening For Tyrosinemia?

According to a story from, doctors have begun screening infants for tyrosinemia type 1. However, it is still unclear how accurate the screening process for this genetic disorder is. A recent review of testing accuracy was published in the Orphanet Journal of Rare Diseases.
Tyrosinemia is a rare genetic disorder. In this condition, the body is unable to break down tyrosine, an amino acid. Since the body does not break it down, tyrosine begins to build up in the body to dangerous levels, which can cause severe damage to vital organs such as the liver and kidneys. The condition can also cause neurological problems. Without treatment, the organs will eventually fail and lead to death. In the past, many people with the condition did not survive childhood, but the treatment nitisinone has increased survivability considerably. Patients may have to follow a diet low in tyrosine and liver transplant may be necessary in severe cases. Type 1 is the most severe form of the tyrosinemia. To learn more about this condition, click here.

Screening for tyrosinemia is common for newborns throughout much of the world, as it is essential for the condition to be recognized early before the organs begin to sustain major damage. The screening procedure involves measuring the concentration of succinylacetone in the blood. People with tyrosinemia have a higher concentration than people without the condition. While testing has demonstrated a 100% accuracy rate for the test, the authors of the review emphasize that screening processes are not perfect, and previous tests make the assumption that people without the high level of succinylacetone are actually disease free.

While most studies indicate that earlier treatment before symptoms appear is beneficial for people with the disorder, the researchers once again suggested that more studies may be useful and that the supposed benefit could be reflective of bias in the studies. The review also emphasized the immense difficulty in researching rare conditions. Studies typically have much less participants than in other studies and participants are more likely to have varied characteristics that could affect results. Some studies also lack control groups, and when treatment testing is involved, there is rarely another treatment available for comparison.

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