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carnosinemia

Pronunciation: kar′nō-si-nē′mē-ă

Definition: 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]

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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