citrullinemia

cit·rul·lin·emia

variants: or chiefly British citrullinaemia \ ˌsi-trə-lə-ˈnē-mē-ə, si-ˌtrəl-ə-ˈnē-

Medical Definition of citrullinemia

: an inherited disorder of amino acid metabolism that is marked by elevated amounts of citrulline in the blood and urine and typically by hyperammonemia

Note: There are two types of citrullinemia, each caused by a different defective gene. The first and most common type typically appears in the first days of life as a severe, life-threatening illness. The second type, found primarily in Japan, usually appears in adulthood with symptoms (such as confusion and memory loss) chiefly affecting the nervous system. Both types are inherited as an autosomal recessive trait requiring that both parents pass on a copy of the defective gene on a chromosome other than a sex chromosome.

… citrullinemia doesn't have easily detectable symptoms such as a rash or high fever. But the unchecked buildup of ammonia can bring about poor eating, sluggishness and, eventually, a coma and death … — John Pope, The Times-Picayune (New Orleans, Louisiana), 22 Nov. 2004