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

Giovanni Baranello, Enrico Alfei, Diego Martinelli, Manuela Rizzetto, Fabiana Cazzaniga, Carlo Dionisi-Vici, Cinzia Gellera, Barbara Castellotti

Research output: Contribution to journalArticle


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 homozygous missense mutation in the ARG1 gene. A detailed clinical, biochemical, and neurophysiological follow-up after 7 months of sodium benzoate therapy is reported. Results Laboratory findings, gait abnormalities, spastic paraparesis, and electroencephalographic and neurophysiological abnormalities remained quite stable over the follow-up. Conversely, a mild cognitive deterioration has been detected by means of the neuropsychologic assessment. Conclusions Further longitudinal studies by means of longer follow-up and using clinical, biochemical, radiological, and neurophysiological assessments are needed in such patients to describe natural history and monitor the effects of treatments.

Original languageEnglish
Pages (from-to)430-433
Number of pages4
JournalPediatric Neurology
Issue number3
Publication statusPublished - 2014



  • ARG1 gene
  • cognitive decline
  • follow-up
  • hyperargininemia
  • progressive spastic paraparesis

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

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