Mesh term Urea Cycle Disorders, Inborn
Browse to parent terms:Amino Acid Metabolism, Inborn Errors
Brain Diseases, Metabolic, Inborn
Description
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.Browse to child terms:
Argininosuccinic Aciduria
Carbamoyl-Phosphate Synthase I Deficiency Disease
Citrullinemia
Hyperargininemia
Ornithine Carbamoyltransferase Deficiency Disease
Search for this term in our Faculty Database
View this term at the NCBI website
