Article
Hyperargininemia: 7-month follow-up under sodium benzoate therapy in an Italian child presenting progressive spastic paraparesis, cognitive decline, and novel mutation in ARG1 gene.
Pediatric neurology - 1 Sept 2014
Baranello Giovanni, Alfei Enrico, Martinelli Diego, Rizzetto Manuela, Cazzaniga Fabiana, Dionisi-Vici Carlo, Gellera Cinzia, Castellotti Barbara
Abstract excerpt
BACKGROUND: Hyperargininemia due to mutations in ARG1 gene is an autosomal recessive inborn error of metabolism caused by a defect in the final step of the urea cycle. Common clinical presentation is a variable association of progressive spastic paraparesis, epilepsy, and cognitive deficits. METHODS: We describe the clinical history of an Italian child presenting progressive spastic paraparesis, carrying a new...
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