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Term Definition
Carbamyl phosphate synthetase deficiency

Also called CPS1 deficiency. A urea cycle disorder resulting from an enzyme deficiency of carbamyl phosphate synthetase. Caused by a mutation in the CPS1 gene.


Cardiomyopathy is a group of chronic disorders affecting the muscle of the heart resulting in impairment of the pumping function of the heart.


This essential fatty acid metabolism cofactor helps to move the fatty acid to the mitochondria from the cytoplasm of the cell.


Individuals carrying an abnormal gene that can be transmitted to their offspring. These individuals do not show evidence of the disorder.


The breakdown of lean muscle mass to obtain amino acids (for growth and development) and energy, resulting from inadequate supply in the diet. Results in excess production of ammonia. Any metabolic process by which organisms convert substances into excreted compounds

Cerebral edema

Accumulation of fluid in the tissues of the brain, ultimately causing coma.


A situation or disease with a long duration.


An amino acid produced from ornithine during the normal urea cycle and subsequently transformed to arginine by the transfer of a nitrogen atom from aspartate. L-citrulline is sometimes used in place of arginine supplementation in OTC deficiency.


A urea cycle disorder which leads to excessive accumulation of ammonia and other toxins in the blood. Also known as argininosuccinate synthetase deficiency.


A Cofactor is any substance that needs to be present in addition to an enzyme to catalyze a certain reaction.

Conduct disorder

A disorder of childhood and adolescence that involves chronic behavioral and emotional problems, characterized by defiant, impulsive, or antisocial behavior.


Difficult, incomplete, or infrequent evacuation of dry hardened feces from the bowels. Can cause elevation of ammonia in UCD and PA.


Recurring or moving in cycles.


Area of the cell that most of the chemical actions occur.

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