carnosinaemiamedical dictionary

An autosomal recessive congenital disease, characterised by the presence of excess amounts of carnosine in the blood and urine and caused by a genetic deficiency of the enzyme carnosinase. Clinically characterised by progressive neurological damage, severe mental retardation, and myoclonic seizures.

Origin: carnosine + G. Haima, blood + -ia

American spelling: carnosinemia

(05 Mar 2000)

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