title: Effect of l-Arginine in One Patient with Peroxisome Biogenesis Disorder due to PEX12 Deficiency.
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.
authors.affiliation: Reference Centre for Inborn Errors of Metabolism, University Hospital of Nancy, France.
authors.forename: Arthur
authors.initials: A
authors.lastname: Sorlin
authors.affiliation: Laboratory of Hormonology, Metabolism-Nutrition & Oncology (HMNO), Center of Biology and Pathology, CHRU Lille, Lille, France.
authors.forename: Gilbert
authors.initials: G
authors.lastname: Briand
authors.affiliation: Department of Inborn Errors of Metabolism and of Newborn Screening, Centre de Biologie Est, Hospices Civils de Lyon, Bron, France.
authors.forename: David
authors.initials: D
authors.lastname: Cheillan
authors.affiliation: Reference Centre for Inborn Errors of Metabolism, University Hospital of Nancy, France.
authors.forename: Arnaud
authors.initials: A
authors.lastname: Wiedemann
authors.affiliation: Department of Otorhinolaryngology, University Hospital, France.
authors.forename: Bettina
authors.initials: B
authors.lastname: Montaut-Verient
authors.affiliation: Department of Neuroradiology, University Hospital of Nancy, Nancy, France.
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Schmitt
authors.affiliation: Reference Centre for Inborn Errors of Metabolism, University Hospital of Nancy, France.
authors.forename: François
authors.initials: F
authors.lastname: Feillet
mesh_terms: D000410:Alanine Transaminase / Q000097:blood; D001120:Arginine / Q000627:therapeutic use*; D001219:Aspartate Aminotransferases / Q000097:blood; D002648:Child; D002675:Child, Preschool; D003638:Deafness / Q000209:etiology; D002658:Developmental Disabilities / Q000209:etiology; D005227:Fatty Acids / Q000097:blood; D005260:Female; D006801:Humans; D007223:Infant; D008565:Membrane Proteins / Q000172:deficiency / Q000235:genetics*; D009123:Muscle Hypotonia / Q000209:etiology; D018901:Peroxisomal Disorders / Q000097:blood / Q000150:complications / Q000188:drug therapy* / Q000235:genetics; D010831:Phytanic Acid / Q000097:blood; D010875:Pipecolic Acids / Q000097:blood; D012798:Sialorrhea / Q000209:etiology
chemical_list: D005227:Fatty Acids; D008565:Membrane Proteins; C105251:PEX12 protein, human; D010875:Pipecolic Acids; D010831:Phytanic Acid; C002844:pristanic acid; D001120:Arginine; D001219:Aspartate Aminotransferases; D000410:Alanine Transaminase; C031345:pipecolic acid