carnosinemia

carnosinemia

 [kahr″no-sĭ-ne´me-ah]
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.

car·no·si·ne·mi·a

(kar'nō-si-nē'mē-ă), [MIM*212200]
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]

carnosinemia

/car·no·si·ne·mia/ (kahr″no-sĭ-ne´me-ah)
1. excessive amounts of carnosine in the blood.
2. former name for serum carnosinase deficiency.

carnosinemia

[kär′nō sinē′mē·ə]
1 accumulation of carnosine in the blood.

carnosinase deficiency

An autosomal recessive condition characterised by severe psychomotor retardation, myotonic and grand mal seizures.
 
Management
Low-protein diet.

car·no·si·ne·mia

(kahr'nō-si-nē'mē-ă) [MIM*212200]
Congenital disease, characterized by excess carnosine in the blood and urine and caused by a genetic deficiency of the enzyme carnosinase.
[carnosine + G. haima, blood + -ia]