title: 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.
abstract: 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.
authors.affiliation: Developmental Neurology Unit, Pediatric Neuroscience Department, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy. Electronic address: giovanni.baranello@istituto-besta.it.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Baranello
authors.affiliation: Developmental Neurology Unit, Pediatric Neuroscience Department, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.
authors.forename: Enrico
authors.initials: E
authors.lastname: Alfei
authors.affiliation: Division of Metabolism, Department of Pediatrics, "Bambino Gesù" Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Diego
authors.initials: D
authors.lastname: Martinelli
authors.affiliation: Unit of Genetics of Neurodegenerative and Metabolic Diseases, Department of Diagnostic and Applied Techonology, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.
authors.forename: Manuela
authors.initials: M
authors.lastname: Rizzetto
authors.affiliation: Developmental Neurology Unit, Pediatric Neuroscience Department, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.
authors.forename: Fabiana
authors.initials: F
authors.lastname: Cazzaniga
authors.affiliation: Division of Metabolism, Department of Pediatrics, "Bambino Gesù" Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Dionisi-Vici
authors.affiliation: Unit of Genetics of Neurodegenerative and Metabolic Diseases, Department of Diagnostic and Applied Techonology, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.
authors.forename: Cinzia
authors.initials: C
authors.lastname: Gellera
authors.affiliation: Unit of Genetics of Neurodegenerative and Metabolic Diseases, Department of Diagnostic and Applied Techonology, Fondazione IRCCS Istituto Neurologico "Carlo Besta", Milan, Italy.
authors.forename: Barbara
authors.initials: B
authors.lastname: Castellotti
mesh_terms: D001119:Arginase / Q000235:genetics*; D002491:Central Nervous System Agents / Q000627:therapeutic use*; D002648:Child; D003072:Cognition Disorders / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D004252:DNA Mutational Analysis; D006801:Humans; D020162:Hyperargininemia / Q000188:drug therapy* / Q000235:genetics* / Q000503:physiopathology; D008137:Longitudinal Studies; D008297:Male; D009154:Mutation; D009483:Neuropsychological Tests; D020336:Paraparesis, Spastic / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D020160:Sodium Benzoate / Q000627:therapeutic use*; D044465:White People / Q000235:genetics
chemical_list: D002491:Central Nervous System Agents; D001119:Arginase; D020160:Sodium Benzoate
keywords: ARG1 gene; cognitive decline; follow-up; hyperargininemia; progressive spastic paraparesis