Urea cycle disorder
MONDO:0004739A genetic inborn error of metabolism characterized by the deficiency of one of the enzymes necessary for the urea cycle. It results in accumulation of ammonia in the body.
Also known as: disorder of urea cycle metabolism, inborn disorder of urea cycle metabolism and ammonia detoxification, inborn urea cycle disorder, urea cycle disorders, urea cycle metabolism disorder, UCD, disorder of urea cycle metabolism and ammonia detoxification
48 clinical trials for this condition and its sub-types.
Follow this condition — get notified about new trialsSub-types
Ornithine carbamoyltransferase deficiency
(13)
Arginase deficiency
(6)
Argininosuccinic aciduria
(3)
Carbamoyl phosphate synthetase I deficiency disease
(3)
Citrullinemia type I
(3)
Citrin deficiency
(2)
Citrullinemia
(2)
Ornithine translocase deficiency
(2)
3-methylcrotonyl-CoA carboxylase 1 deficiency
(1)
Hyperammonemia due to N-acetylglutamate synthase deficiency
(1)
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
(1)
Hyperinsulinism-hyperammonemia syndrome
(1)
Acute neonatal citrullinemia type I
(0)
Adult-onset citrullinemia type I
(0)
Citrullinemia type II
(0)
Citrullinemia, type II, adult-onset
(0)
Neonatal intrahepatic cholestasis due to citrin deficiency
(0)
Urea cycle disorder or inherited hyperammonemia
(0)
Broader categories
Disease
(618)
Metabolic disease
(215)
Hereditary disease
(172)
Inborn errors of metabolism
(42)
Human disease
(14)
Inborn disorder of amino acid metabolism
(4)
Disease of genetic or genomic mechanism
(2)
Amino acid metabolism disease
(0)
Disease by developmental or physiological process
(0)
Disease by etiologic mechanism
(0)