Urea Cycle Disorders, Inborn

Ureacykelrubbningar, medfödda

Engelsk definition

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.

Svenska synonymer


Engelska synonymer

Urea Cycle Disorders Disorder, Urea Cycle Disorders, Urea Cycle Urea Cycle Disorder Inborn Urea Cycle Disorder