Urea Cycle Disorders (definition)

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Urea Cycle Disorders, Inborn

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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.

Examples Argininosuccinic Aciduria; Carbamoyl-Phosphate Synthase I Deficiency Disease; Citrullinemia; Hyperargininemia; Ornithine Carbamoyltransferase Deficiency Disease

Other names Urea Cycle Disorder; Disorders, Urea Cycle; Disorder, Urea Cycle; Urea Cycle Disorders; Inborn Urea Cycle Disorder

Substance	CAS Registry & name	Categories	Source
HHH syndrome	0	Hyperammonemia Urea Cycle Disorders, Inborn Ornithine/deficiency.
Citrulline transport defect	0	*Urea Cycle Disorders, Inborn.
N-acetyl glutamate synthetase deficiency	0	*Urea Cycle Disorders, Inborn Amino-Acid N-Acetyltransferase/deficiency.
Osteopetrosis with renal tubular acidosis	0	Acidosis, Renal Tubular Osteopetrosis *Urea Cycle Disorders, Inborn Carbonic Anhydrases/deficiency.
Carbamoyl phosphate synthase 1 deficiency	0	*Urea Cycle Disorders, Inborn Carbamoyl-Phosphate Synthase (Ammonia)/deficiency.
3-methylcrotonyl CoA carboxylase 2 deficiency	0	*Urea Cycle Disorders, Inborn Carbon-Carbon Ligases/deficiency.
3-methylcrotonyl CoA carboxylase 1 deficiency	0	*Urea Cycle Disorders, Inborn Carbon-Carbon Ligases/deficiency.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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