arginase deficiency

arginase deficiency
ar·gi·nase de·fi·cien·cy (ahrґjĭ-nās) 1. an autosomal recessive aminoacidopathy caused by mutations in the ARG1 gene (locus: 6q23), which encodes arginine 1. Arginine is elevated in blood and urine and may cause secondary cystinuria; oroticaciduria is common, but hyperammonemia is rare. Clinical signs include psychomotor retardation, hepatomegaly, and scalp discoloration. Called also argininemia and hyperargininemia.

Medical dictionary. 2011.

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