CNP Seminar : Dr Christel Tran, MD
Friday, October 26, 2018, 14:00
"Psychiatric manifestations of Inborn Errors of Metabolism: think of treatable diseases!"
Dr Christel Tran
Médecin associée, MER
FMH médecine interne, endocrinologie et diabétologie
Consultation Adulte avec Erreur Innée du Métabolisme
Centre des Maladies Moléculaires, SMG, CHUV, Lausanne
Invited by Chin Eap
Hôpital Psychiatrique de Cery
Site de Cery, CH-1008 Prilly-Lausanne
Inborn errors of metabolism (IEM) are due to mutations of genes coding for enzymes of intermediary metabolism and are classified into 3 broad categories: 1) Intoxication 2) energy defect and 3) cellular organelles synthesis or catabolism defect. Improvements of therapy over these last 20 years has improved prognosis of children with IEM. These children grow up and should have their transition to specialized adult care. Adult patients with IEM are a relatively new phenomenon with currently only limited knowledge. IEM are a rare but important cause of psychiatric disorders in adolescents and adults, the signs of which may remain isolated for years before other more specific organic signs appear. Metabolic screening undertaken in a population of subjects with psychosis demonstrated the presence of treatable metabolic disorders in a significant number of cases. The nature of the symptoms that should alert the clinician will be discussed in this lecture as well as an algorithm for the diagnosis of IEM in patients with psychiatric symptoms.
1. C Tran, J Serratrice, J-M Nuoffer, A Schaller, B Favrat, F Barbey, J.A Lobrinus, I Kern, T Kuntzer, D Ballhausen. L’interniste face aux maladies rares:quand y penser? L’exemple des maladies mitochondriales. Rev Med Suisse 2017 ; 13 : 159-63.
2. C. Tran, F. Barbey, N. Pitteloud; J. Philippe, I. Kern, L. Bonafé. Erreurs innées du métabolisme: transition enfant – adulte. Rev Med Suisse 2015; 11 : 445-9.
3. C Tran, L Bonafé, J-M Nuoffer, J Rieger, M M. Berger. Adult classical homocystinuria requiring parenteral nutrition: Pitfalls and management. Clinical Nutrition 37 (2018) 1114 – 1120.