title: [Inborn errors of metabolism in adult neurology].
abstract: Inborn errors of metabolism (IEM) are caused by mutations in genes coding for enzymes and other proteins involved in cell metabolism. Many IEM can be treated effectively. Although IEM have usually been considered pediatric diseases, they can present at any age, mostly with neurological and psychiatric symptoms, and therefore constitute an integral subspeciality of neurology. However, although they are increasingly being recognized, IEM remain rare, and the care for patients should be optimized in specialized reference centers. Since the number of different diseases is very large, the diagnostic approach needs to be rigorous, starting at the clinics and calling upon the additional help of neuroradiology, biochemistry and molecular biology. In practice, it is important for the neurologist to recognize: (1) when to start suspecting an IEM; and (2) how to correlate a given clinical presentation with one of the five major groups of diseases affecting the nervous system. These five groups may be classified as: (a) energy metabolism disorders such as respiratory chain disorders, pyruvate dehydrogenase deficiency, GLUT1 deficiency, fatty-acid β-oxidation defects, and disorders involving key cofactors such as electron transfer flavoprotein, thiamine, biotin, riboflavin, vitamin E and coenzyme Q10; (b) intoxication syndromes such as porphyrias, urea-cycle defects, homocystinurias, organic acidurias and amino acidopathies; (c) lipid-storage disorders such as lysosomal storage disorders (Krabbe disease, metachromatic leukodystrophy, Niemann - Pick disease type C, Fabry disease and Gaucher's disease), peroxisomal disorders (adrenomyeloneuropathy, Refsum disease, disorders of pristanic acid metabolism, peroxisome biogenesis disorders), Tangier disease and cerebrotendinous xanthomatosis; (d) metal-storage diseases such as iron, copper and manganese metabolic disorders; and (e) neurotransmitter metabolism defects, including defects of serotonin, dopamine and glycine metabolism.
authors: Département de Neurologie, centre de référence maladies lysosomales, Unité fonctionnelle neurométabolique bio-clinique et génétique, Hôpital Pitié-Salpêtrière, Assistance Publique Hôpitaux de Paris, 47 Boulevard de l'Hôpital, 75651 Paris cedex 13, France. frederic.sedel@psl.aphp.fr
authors: F
authors: F
authors: Sedel
mesh_terms: D000328:Adult; D020739:Brain Diseases, Metabolic, Inborn / Q000235:genetics / Q000628:therapy; D004734:Energy Metabolism / Q000235:genetics / Q000502:physiology; D006801:Humans; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics / Q000628:therapy; D020140:Lysosomal Storage Diseases, Nervous System / Q000235:genetics / Q000628:therapy; D008661:Metabolism, Inborn Errors / Q000145:classification / Q000150:complications / Q000235:genetics / Q000628:therapy*; D008664:Metal Metabolism, Inborn Errors / Q000235:genetics / Q000628:therapy; D009422:Nervous System Diseases / Q000145:classification / Q000209:etiology / Q000235:genetics / Q000628:therapy*; D018377:Neurotransmitter Agents / Q000378:metabolism
chemical_list: D018377:Neurotransmitter Agents