| 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 (05 Mar 2000) |
|---|