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.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

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]
Farlex Partner Medical Dictionary © Farlex 2012

carnosinase deficiency

An autosomal recessive condition characterised by severe psychomotor retardation, myotonic and grand mal seizures.
 
Management
Low-protein diet.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

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]
Medical Dictionary for the Dental Professions © Farlex 2012
References in periodicals archive ?
No entanto, essa hidrolise de carnosina no jejuno e provavelmente parcial, uma vez que alguns estudos foram capazes de demonstrar elevacao da carnosinemia apos a ingestao de carnosina (Hama e colaboradores, 1976; Dunnett e colaboradores, 2002).
Low plasma carnosinase activity promotes carnosinemia after carnosine ingestion in humans.
However, it is noteworthy that there are cases of development of carnosinemia, a rare autosomal recessive [15] metabolic disorder [16] caused by a deficiency of carnosinase.