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Published on: November 20, 2015
Arginase Deficiency Presenting as Acute Encephalopathy
Leema Pauline Cornelius1, Vivekasaravanan Raju1, Asir Julin1
1Department of Paediatric Neurology, Institute of Child Health and Hospital for Children, Madras Medical College, Chennai, Tamil Nadu, India.
Abstract:
Urea cycle disorders are rare metabolic disorders that present as encephalopathy with hyperammonemia. Arginase deficiency causing hyperargininemia is one among the urea cycle disorders, which usually presents as spastic diplegia. Hyperammonemic encephalopathy is rare in arginase deficiency. We present a rare case of arginase deficiency presenting as acute encephalopathy in a child.
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