Treatable metabolic psychoses that go undetected: What Niemann-Pick type C can teach us

Abstract

Objective. The objective of this review is to raise awareness of the prevalence of inborn errors of metabolism, in particular NP-C, in psychiatric populations. Methods. This review summarises research presented at a satellite symposium held on 28 August 2010 at the 23rd European College of Neuropsychopharmacology (ECNP) meeting. Results and Conclusion. Organic causes of psychoses may have an unrecognised yet notable prevalence, particularly in adolescent or adult patients. Several inherited metabolic disorders can present with psychiatric signs. In some disorders, such as Niemann-Pick type C (NP-C), the disease may remain unrecognised for many years due to a heterogeneous and subtle clinical presentation. In patients presenting with psychoses, subtle signs such as vertical supranuclear gaze palsy, ataxia and splenomegaly should raise the suspicion of NP-C. Miglustat is so far the only approved treatment for NP-C. Miglustat can stabilise neurological disease, particularly in adolescent or adult-onset patients who are detected as early as possible, before irreversible neurological damage occurs.

Key Words::

• Inborn errors of metabolism
• Niemann-Pick disease type C
• organic psychosis

Acknowledgements

We would like to thank the ECNP Satellite Symposium chair Professor Norman Sartorius for his contribution to the data. Medical writing assistance during the preparation of the manuscript was provided by PHOCUS Ltd., Basel, Switzerland, funded by Actelion Pharmaceuticals Ltd.

Statement of interest

Authors Klünemann and Sedel are advisory board members for Actelion Pharmaceuticals Ltd. and all the authors (including Santosh) received a speaker fee for their presentation at the ECNP Satellite Symposium.