Psychiatric and cognitive signs associated with inborn errors of metabolism

Background. - Inborn errors of metabolism are rare disease and forms with presenting psychiatric signs are even rarer. However, some of them are treatable and early treatment (which may start when psychiatric signs are the only manifestation) may lead to more efficacy and better improvement for either psychiatric and organic signs. Recognition by psychiatrist, and non-specialized practionners, is therefore a major issue for patients and health care. Observation. - After an illustrating case report, we propose a short description of psychiatric signs, focusing on presenting signs, associated with neurometabolic disease. We also propose a pragmatic and simple clinical diagnostic strategy for practionners when facing to atypical psychiatric signs leading to a minimum reasonable exploratory assessment. Conclusion. Atypical psychiatric signs must be known by psychiatrists in order to seek neurometabolic disease. Multidisciplinary approach, especially between psychiatrists and neurologists, is crucial in this topic. (C) 2011 Elsevier Masson SAS. All rights reserved.