Download PDF
Neuropediatrics 2016; 47(03): 179-181
DOI: 10.1055/s-0036-1578798
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

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

Arthur Sorlin
1   Reference Centre for Inborn Errors of Metabolism, University Hospital of Nancy, France
,
Gilbert Briand
2   Laboratory of Hormonology, Metabolism-Nutrition & Oncology (HMNO), Center of Biology and Pathology, CHRU Lille, Lille, France
,
David Cheillan
3   Department of Inborn Errors of Metabolism and of Newborn Screening, Centre de Biologie Est, Hospices Civils de Lyon, Bron, France
4   INSERM U1060, CarMeN Laboratory, University of Lyon, Lyon, France
,
Arnaud Wiedemann
1   Reference Centre for Inborn Errors of Metabolism, University Hospital of Nancy, France
,
Bettina Montaut-Verient
5   Department of Otorhinolaryngology, University Hospital, France
,
Emmanuelle Schmitt
6   Department of Neuroradiology, University Hospital of Nancy, Nancy, France
,
François Feillet
1   Reference Centre for Inborn Errors of Metabolism, University Hospital of Nancy, France
› Author Affiliations
Further Information

Publication History

12 August 2015

07 January 2016

Publication Date:
04 March 2016 (online)

Also available at
    Permissions and Reprints

Abstract

Peroxisome biogenesis disorders (PBD) are a heterogeneous group of disorders due to PEX genes mutations, with a broad clinical spectrum comprising severe neonatal disease to mild presentation. Recently, Berendse et al reported an improvement of peroxisomal functions with l-arginine supplementation in fibroblasts with specific mutations of PEX1, PEX6, and PEX12. We report the first treatment by l-arginine in a patient homozygous for the specific PEX12 mutation shown to be l-arginine responsive in fibroblasts. We described the effect of l-arginine on biochemical (decrease of some plasma peroxisomal parameters) and neurophysiological (improvement of deafness) parameters. Some subjective clinical effects have also been observed (no more sialorrhea, behavior improvement). More studies are needed to assess the efficacy of l-arginine in some PBD patients with specific mutations.

Keywords

pediatrics - metabolism - l-arginine
 

  • References

  • 1 Gould SJ, Raymond GV, Valle D. The peroxisome biogenesis disorders. In: Valle D, ed. Scriver's Online Metabolic and Molecular Bases of Inherited Disease. New York, NY: The McGraw-Hill Education; 2014:chap 129. Available at: http://ommbid.mhmedical.com/content.aspx?sectionid=62640212&bookid=971 . Accessed February 10, 2016
    PubMed
  • 2 Braverman NE, D'Agostino MD, Maclean GE. Peroxisome biogenesis disorders: Biological, clinical and pathophysiological perspectives. Dev Disabil Res Rev 2013; 17 (3) 187-196
    CrossrefPubMedSearch in Google Scholar
  • 3 Wanders RJ. Metabolic functions of peroxisomes in health and disease. Biochimie 2014; 98: 36-44
    CrossrefPubMedSearch in Google Scholar
  • 4 Berendse K, Ebberink MS, Ijlst L, Poll-The BT, Wanders RJ, Waterham HR. Arginine improves peroxisome functioning in cells from patients with a mild peroxisome biogenesis disorder. Orphanet J Rare Dis 2013; 8: 138
    CrossrefPubMedSearch in Google Scholar
  • 5 Sharma S, Sarkar S, Paul SS, Roy S, Chattopadhyay K. A small molecule chemical chaperone optimizes its unfolded state contraction and denaturant like properties. Sci Rep 2013; 3: 3525
    PubMedSearch in Google Scholar
  • 6 Lüneburg N, Xanthakis V, Schwedhelm E , et al. Reference intervals for plasma L-arginine and the L-arginine:asymmetric dimethylarginine ratio in the Framingham Offspring Cohort. J Nutr 2011; 141 (12) 2186-2190
    CrossrefPubMedSearch in Google Scholar
  • 7 El-Hattab AW, Emrick LT, Williamson KC, Craigen WJ, Scaglia F. The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome. Meta Gene 2013; 1: 8-14
    CrossrefPubMedSearch in Google Scholar