Carnosinaemia

From Biology-Online Dictionary | Biology-Online Dictionary

Carnosinaemia

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