Urea Cycle Metabolism Disorder

Urea Cycle Disorders, Inborn

Disorder of urea cycle metabolism, unspecified

Urea Cycle Metabolism Disorder

Disorder of urea cycle metabolism and ammonia detoxification

inborn urea cycle disorder

Urea Cycle Disorder

Disorders of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia

Disorder of the urea cycle metabolism

Disorder of the urea cycle metabolism (disorder)

Disorder of Urea Cycle Metabolism

Disorder of urea cycle

Urea cycle disorders

Disorders of urea cycle metabolism

Urea Cycle Disorders, Inborn [Disease/Finding]

Dis urea cycle metabol

Disorders, Urea Cycle

Disorder, Urea Cycle

[NCIt Definition]: A 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. [MSH 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. [GARD Definition]: A urea cycle disorder is a genetic disorder that results in a deficiency of one of the six enzymes in the urea cycle. These enzymes are responsible for removing ammonia from the blood stream. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is changed to a compound called urea and removed from the blood. Normally, the urea is removed from the body through the urine. In urea cycle disorders, nitrogen builds up in the blood in the form of ammonia, a highly toxic substance, resulting in hyperammonemia (elevated blood ammonia). Ammonia then reaches the brain through the blood, where it can cause irreversible brain damage, coma and/or death. The onset and severity of urea cycle disorders is highly variable. The severity correlates with the amount of urea cycle enzyme function. - this information is from GARD/ORDR/NCATS. [CSP Definition]: Inherited errors in the metabolic reactions occurring in the liver that convert ammonia to urea, resulting from inborn genetic mutations.

http://pat.nichd.nih.gov/maternalconditions/C0154246

[NCIt Definition]: A 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.

[MSH 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.

[GARD Definition]: A urea cycle disorder is a genetic disorder that results in a deficiency of one of the six enzymes in the urea cycle. These enzymes are responsible for removing ammonia from the blood stream. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is changed to a compound called urea and removed from the blood. Normally, the urea is removed from the body through the urine. In urea cycle disorders, nitrogen builds up in the blood in the form of ammonia, a highly toxic substance, resulting in hyperammonemia (elevated blood ammonia). Ammonia then reaches the brain through the blood, where it can cause irreversible brain damage, coma and/or death. The onset and severity of urea cycle disorders is highly variable. The severity correlates with the amount of urea cycle enzyme function. - this information is from GARD/ORDR/NCATS.

[CSP Definition]: Inherited errors in the metabolic reactions occurring in the liver that convert ammonia to urea, resulting from inborn genetic mutations.

https://ncim.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI%20Metathesaurus&code=C0154246

Urea Cycle Metabolism Disorder

C0154246

C0154246

Urea Cycle Metabolism Disorder

http://pat.nichd.nih.gov/maternalconditions/C0025521

Urea Cycle Disorders, Inborn

Disorder of urea cycle metabolism, unspecified

Urea Cycle Metabolism Disorder

Disorder of urea cycle metabolism and ammonia detoxification

inborn urea cycle disorder

Urea Cycle Disorder

Disorders of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia

Disorder of the urea cycle metabolism

Disorder of the urea cycle metabolism (disorder)

Disorder of Urea Cycle Metabolism

Disorder of urea cycle

Urea cycle disorders

Disorders of urea cycle metabolism

Urea Cycle Disorders, Inborn [Disease/Finding]

Dis urea cycle metabol

Disorders, Urea Cycle

Disorder, Urea Cycle