Citrullinemia is an autosomal recessive urea cycle disorder that causes ammonia and other toxic substances to accumulate in the blood. Since the substances also accumulate in the urine, the disorder can also be called citrullinuria. Two forms of citrullinemia have been described, both having different signs and symptoms, and are caused by mutation...
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http://en.wikipedia.org/wiki/Citrullinemia
(sit-rul″in-e´me-ә) the presence in the blood of excessive citrulline, resulting from an inborn error of metabolism, marked by absence or deficiency of the enzyme argininosuccinate synthetase. The disorder, transmitted as an autosomal recessive trait, is manifested by hyperammonemia, vomiting, convulsions, a...
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http://www.encyclo.co.uk/local/21001
Type: Term Pronunciation: sit′rul-i-nē′mē-ă Definitions: 1. Urea cycle disorder in which citrulline concentrations in the blood, urine, and cerebrospinal fluid are elevated, because of deficiency of arginosuccinate synthetase (ASS); manifested clinically by lethargy, vomiting, ammonia intoxication, and mental retardation ...
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http://www.medilexicon.com/medicaldictionary.php?t=17943
Citrullinemia is a urea cycle disorder which is an inherited metabolic disease, and stems from a deficiency of Argininosuccinic acid Synthetase. Argininosuccinate synthetase is one of six enzymes that play a role in the breakdown and removal of nitrogen from the body, a process known as the urea cycle. The lack of this enzyme results in excessive a...
Found on
http://www.skincareguide.ca/glossary/c/citrullinemia.html
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