Definitions for urea cycle disorders, inborn
This page provides all possible meanings and translations of the word urea cycle disorders, inborn
U.S. National Library of Medicine
Urea Cycle Disorders, Inborn
Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA.
Find a translation for the urea cycle disorders, inborn definition in other languages:
Select another language:
Discuss these urea cycle disorders, inborn definitions with the community:
Use the citation below to add this definition to your bibliography:
"urea cycle disorders, inborn." Definitions.net. STANDS4 LLC, 2014. Web. 16 Apr. 2014. <http://www.definitions.net/definition/urea cycle disorders, inborn>.