Journal of Inherited Metabolic Disease

, Volume 30, Issue 5, pp 631-641

First online:

Psychiatric manifestations revealing inborn errors of metabolism in adolescents and adults

  • F. SedelAffiliated withFederation of Nervous System Diseases, Hôpital de la SalpêtrièreNational Reference Center for Lysosomal Diseases, Hôpital de la Salpêtrière Email author 
  • , N. BaumannAffiliated withUnité mixte de recherche INSERM U-711, Hôpital de la Salpêtrière
  • , J.-C. TurpinAffiliated withUnité mixte de recherche INSERM U-711, Hôpital de la Salpêtrière
  • , O. Lyon-CaenAffiliated withFederation of Nervous System Diseases, Hôpital de la Salpêtrière
  • , J.-M. SaudubrayAffiliated withNational Reference Center for Metabolic Diseases, Necker-enfants malades Hospital and Université René Descartes (Paris V), Assistance Publique-Hôpitaux de Paris
  • , D. CohenAffiliated withService de Psychiatrie de l’Enfant et de l’Adolescent, Hôpital de la Salpêtrière and Université Pierre et Marie Curie (Paris VI)

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Inborn errors of metabolism (IEMs) may present in adolescence or adulthood as a psychiatric disorder. In some instances, an IEM is suspected because of informative family history or because psychiatric symptoms form part of a more diffuse clinical picture with systemic, cognitive or motor neurological signs. However, in some cases, psychiatric signs may be apparently isolated. We propose a schematic classification of IEMs into three groups according to the type of psychiatric signs at onset. Group 1 represents emergencies, in which disorders can present with acute and recurrent attacks of confusion, sometimes misdiagnosed as acute psychosis. Diseases in this group include urea cycle defects, homocysteine remethylation defects and porphyrias. Group 2 includes diseases with chronic psychiatric symptoms arising in adolescence or adulthood. Catatonia, visual hallucinations, and aggravation with treatments are often observed. This group includes homocystinurias, Wilson disease, adrenoleukodystrophy and some lysosomal disorders. Group 3 is characterized by mild mental retardation and late-onset behavioural or personality changes. This includes homocystinurias, cerebrotendinous xanthomatosis, nonketotic hyperglycinaemia, monoamine oxidase A deficiency, succinic semialdehyde dehydrogenase deficiency, creatine transporter deficiency, and α and β mannosidosis. Because specific treatments should be more effective at the ‘psychiatric stage’ before the occurrence of irreversible neurological lesions, clinicians should be aware of atypical psychiatric symptoms or subtle organic signs that are suggestive of an IEM. Here we present an overview of IEMs potentially revealed by psychiatric problems in adolescence or adulthood and provide a diagnostic strategy to guide metabolic investigations.