title: [Hereditary peroxisomal diseases].
abstract: Peroxisomes are small intracellular organelles that catalyse key metabolic reactions such as the beta-oxidation of some straight-chain or branched-chain fatty acids and the alpha-oxidation of phytanic acid. These enzyme reactions produce hydrogen peroxide, which is subsequently neutralized by the peroxisomal catalase. Peroxisomes also metabolize glyoxylate to glycine, and catalyze the first steps of plasmalogen biosynthesis. There are more than a dozen inherited peroxisomal disorders in humans. These metabolic diseases are due to monogenic defects that affect either a single function (such as enzyme or a transporter) or more than two distinct functions because of the impairment of several aspects of peroxisome biogenesis. With the notable exception of X-linked adrenoleucodystrophy, these inborn disorders are transmitted as autosomal recessive traits. Their clinical presentation can be very heterogeneous, and include neonatal, infantile or adult forms. The present review describes the symptomatology of these genetic diseases, the underlying genetic and biochemical alterations, and summarizes their diagnostic approach.
authors.affiliation: CHU Purpan, service de médecine interne, Toulouse, France; Institut national de la santé et de la recherche médicale (Inserm) UMR1037, Toulouse, France; Université de Toulouse, centre de recherches en cancérologie de Toulouse (CRCT), Toulouse, France; Centre de compétence des maladies héréditaires du métabolisme Sud-Ouest, Toulouse, France. Electronic address: leonardo.astudillo@inserm.fr.
authors.forename: Leonardo
authors.initials: L
authors.lastname: Astudillo
authors.affiliation: Institut national de la santé et de la recherche médicale (Inserm) UMR1037, Toulouse, France; Université de Toulouse, centre de recherches en cancérologie de Toulouse (CRCT), Toulouse, France; CHU Purpan, institut fédératif de biologie, laboratoire de biochimie métabolique, Toulouse, France; Centre de compétence des maladies héréditaires du métabolisme Sud-Ouest, Toulouse, France.
authors.forename: Frédérique
authors.initials: F
authors.lastname: Sabourdy
authors.affiliation: CHU Purpan, service de pédiatrie, Toulouse, France; Centre de compétence des maladies héréditaires du métabolisme Sud-Ouest, Toulouse, France.
authors.forename: Guy
authors.initials: G
authors.lastname: Touati
authors.affiliation: Institut national de la santé et de la recherche médicale (Inserm) UMR1037, Toulouse, France; Université de Toulouse, centre de recherches en cancérologie de Toulouse (CRCT), Toulouse, France; CHU Purpan, institut fédératif de biologie, laboratoire de biochimie métabolique, Toulouse, France; Centre de compétence des maladies héréditaires du métabolisme Sud-Ouest, Toulouse, France. Electronic address: thierry.levade@inserm.fr.
authors.forename: Thierry
authors.initials: T
authors.lastname: Levade
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D016026:Bone Marrow Transplantation; D001921:Brain / Q000473:pathology; D002386:Cataract / Q000151:congenital / Q000235:genetics; D002648:Child; D003663:Decision Trees; D004041:Dietary Fats / Q000008:administration & dosage / Q000009:adverse effects; D005227:Fatty Acids / Q000378:metabolism; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D006861:Hydrogen Peroxide / Q000378:metabolism; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009206:Myocardium / Q000473:pathology; D001678:Organelle Biogenesis; D018901:Peroxisomal Disorders / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D020675:Peroxisomes / Q000201:enzymology / Q000502:physiology; D010641:Phenotype; D010831:Phytanic Acid / Q000378:metabolism
chemical_list: D004041:Dietary Fats; D005227:Fatty Acids; D010831:Phytanic Acid; D006861:Hydrogen Peroxide