carnosinemia

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 mental retardation, and myoclonic seizures. [carnosine + G. haima, blood + -ia]

* * *

car·no·si·ne·mia (kahr″no-sĭ-neґme-ə) 1. accumulation of carnosine in the blood. 2. a rare autosomal recessive disorder associated with mutation at gene locus 18q21.3, characterized by deficiency of carnosinase (X-His dipeptidase), elevated levels of carnosine in the blood and urine, and in most cases neurologic and intellectual deficits.