Citrullinemia

Citrullinemia
Other namesCitrullinuria
L-Citrulline
SpecialtyMedical genetics
SymptomsExtreme sleepiness, no appetite, irritability, vomiting, muscle weakness, breathing problems.

Citrullinemia is an autosomal recessive urea cycle disorder that causes ammonia and other toxic substances to accumulate in the blood.

Two forms of citrullinemia have been described, both having different signs, symptoms, and management, and are caused by mutations in different genes. Citrullinemia belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of chemical reactions taking place in the liver. These reactions convert toxic ammonia, generated during the breakdown of amino acids, into urea, which is excreted by the kidneys.

This article is issued from Wikipedia. The text is available under Creative Commons Attribution-Share Alike 4.0 unless otherwise noted. Additional terms may apply for the media files.