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TAKE THE QUIZcitrullinemia
noun
cit·rul·lin·emia
variants
or chiefly British citrullinaemia
: 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.
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Merriam-Webster unabridged
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