| arginase deficiency |
an autosomal recessive aminoacidopathy involving the biosynthesis of urea; 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.
출처: www.mercksource.com/pp/us/cns/cns_health_library.j...
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