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

6 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)430-433
Number of pages4
JournalPediatric Neurology
Volume51
Issue number3
DOIs
Publication statusPublished - 2014

Fingerprint

Hyperargininemia
Spastic Paraparesis
Sodium Benzoate
Mutation
Genes
Inborn Errors Metabolism
Missense Mutation
Natural History
Gait
Longitudinal Studies
Urea
Epilepsy
Therapeutics
History
Cognitive Dysfunction

Keywords

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

ASJC Scopus subject areas

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

Cite this

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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.",
keywords = "ARG1 gene, cognitive decline, follow-up, hyperargininemia, progressive spastic paraparesis",
author = "Giovanni Baranello and Enrico Alfei and Diego Martinelli and Manuela Rizzetto and Fabiana Cazzaniga and Carlo Dionisi-Vici and Cinzia Gellera and Barbara Castellotti",
year = "2014",
doi = "10.1016/j.pediatrneurol.2014.05.029",
language = "English",
volume = "51",
pages = "430--433",
journal = "Pediatric Neurology",
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publisher = "Elsevier Inc.",
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TY - JOUR

T1 - Hyperargininemia

T2 - 7-month follow-up under sodium benzoate therapy in an Italian child presenting progressive spastic paraparesis, cognitive decline, and novel mutation in arg1 gene

AU - Baranello, Giovanni

AU - Alfei, Enrico

AU - Martinelli, Diego

AU - Rizzetto, Manuela

AU - Cazzaniga, Fabiana

AU - Dionisi-Vici, Carlo

AU - Gellera, Cinzia

AU - Castellotti, Barbara

PY - 2014

Y1 - 2014

N2 - 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.

AB - 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.

KW - ARG1 gene

KW - cognitive decline

KW - follow-up

KW - hyperargininemia

KW - progressive spastic paraparesis

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