Effect of l-Arginine in One Patient with Peroxisome Biogenesis Disorder due to PEX12 Deficiency

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Arthur Sorlin1, Gilbert Briand2, David Cheillan3

  • 1Reference Centre for Inborn Errors of Metabolism, University Hospital of Nancy, France.

Neuropediatrics
|March 8, 2016
PubMed

Insights

L-arginine supplementation shows promise for treating peroxisome biogenesis disorders (PBD) caused by specific PEX gene mutations. This study details the first patient treatment, observing biochemical and neurophysiological improvements in PBD patients.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Peroxisome biogenesis disorders (PBD) are a diverse genetic condition resulting from PEX gene mutations.
  • PBD presents with a wide range of clinical severity, from severe neonatal forms to milder presentations.
  • Previous research indicated L-arginine may improve peroxisomal function in cell models with specific PEX gene mutations (PEX1, PEX6, PEX12).

Observation:

  • This study reports the first clinical application of L-arginine in a patient with a PEX12 mutation.
  • The patient was homozygous for a PEX12 mutation previously identified as responsive to L-arginine in fibroblast studies.
  • The treatment involved L-arginine supplementation.

Findings:

  • L-arginine treatment led to a decrease in certain plasma peroxisomal parameters.
  • Significant neurophysiological improvement was observed, specifically in hearing (deafness).
  • Subjective clinical benefits included reduced sialorrhea and improved behavior.

Implications:

  • L-arginine may be a potential therapeutic agent for a subset of PBD patients with specific PEX gene mutations.
  • Further research is crucial to validate the efficacy and long-term effects of L-arginine in PBD management.
  • This study opens avenues for targeted therapeutic strategies in genetic peroxisomal disorders.

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