Citrullinemia Report
Citrullinemia
Alterations in the urea cycle can lead to the accumulation of substances that are toxic to the body, such as ammonia. This molecule, with its mainly neurotoxic effects, is responsible for the typical clinical picture of citrullinemia. These alterations concern the activity of enzymes involved in chemical reactions aimed at converting ammonia into urea, a harmless compound destined for urinary excretion.
2 genes analyzed
It is recommended if:
This test is useful for those with strongly increased values of plasma citrulline, while only slightly increased values may be associated with healthy carrier status or other conditions that fall within the defects of the urea cycle. The molecular analysis allows genetic confirmation, recognition of healthy carriers and possible prenatal diagnosis.
List of main conditions:
- Citrullinemia
- Citrullinemia, adult-onset type II
- Citrullinemia, type II, neonatal-onset
Simple workflow
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