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.

Descriptor ID	D056806
MeSH Number(s)	C10.228.140.163.100.937 C16.320.565.100.940 C16.320.565.189.937 C18.452.132.100.937 C18.452.648.100.940 C18.452.648.189.937
Concept/Terms	Urea Cycle Disorders, Inborn Urea Cycle Disorders, Inborn Urea Cycle Disorders Disorder, Urea Cycle Disorders, Urea Cycle Urea Cycle Disorder Inborn Urea Cycle Disorder

Below are MeSH descriptors whose meaning is more general than "Urea Cycle Disorders, Inborn".

Below are MeSH descriptors whose meaning is related to "Urea Cycle Disorders, Inborn".

Below are MeSH descriptors whose meaning is more specific than "Urea Cycle Disorders, Inborn".