Urea cycle disorder or inherited hyperammonemia
MONDO:0800153A disorder of amino acid metabolism that has its basis in the disruption of the urea cycle or an inherited hyperammonemia (any specific disease which causes an inherited increased concentration of ammonia in the blood).
45 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)
Ornithine translocase deficiency
(2)
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)
Broader categories
Disease
(618)
Metabolic disease
(215)
Hereditary disease
(172)
Inborn errors of metabolism
(42)
Human disease
(14)
Urea cycle disorder
(10)
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)