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]

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]

单词	carnosinemia
释义	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), [MIM212200] 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] 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) [MIM212200] 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]
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