Carnosinemia, also called carnosinase deficiency or aminoacyl-histidine dipeptidase deficiency, is a rare autosomal recessive metabolic disorder caused by a deficiency of carnosinase, a dipeptidase (a type of enzyme that splits dipeptides into their two amino acid constituents). Carnosine is a dipeptide composed of beta-alanine and histidine, and ...
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http://en.wikipedia.org/wiki/Carnosinemia
(kahr″no-sĭ-ne´me-ә) excessive amounts of carnosine in the blood; it has been associated with a progressive neurologic disease characterized by severe mental defect and myoclonic seizures, and is probably due to a genetic deficiency of carnosinase in the serum.
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http://www.encyclo.co.uk/local/21001
Type: Term Pronunciation: kar′nō-si-nē′mē-ă Definitions: 1. An autosomal recessive congenital disease, characterized by the presence of excess amounts of carnosine in the blood and urine and caused by a genetic deficiency of the enzyme carnosinase. Clinically characterized by progressive neurologic damage, severe men...
Found on
http://www.medilexicon.com/medicaldictionary.php?t=14622
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