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The neuropsychiatry of inborn errors of metabolism

  • SSIEM Symposium 2012
  • Published:
Journal of Inherited Metabolic Disease

Abstract

A number of metabolic disorders that affect the central nervous system can present in childhood, adolescence or adulthood as a phenocopy of a major psychiatric syndrome such as psychosis, depression, anxiety or mania. An understanding and awareness of secondary syndromes in metabolic disorders is of great importance as it can lead to the early diagnosis of such disorders. Many of these metabolic disorders are progressive and may have illness-modifying treatments available. Earlier diagnosis may prevent or delay damage to the central nervous system and allow for the institution of appropriate treatment and family and genetic counselling. Metabolic disorders appear to result in neuropsychiatric illness either through disruption of late neurodevelopmental processes (metachromatic leukodystrophy, adrenoleukodystrophy, GM2 gangliosidosis, Niemann-Pick type C, cerebrotendinous xanthomatosis, neuronal ceroid lipofuscinosis, and alpha mannosidosis) or via chronic or acute disruption of excitatory/inhibitory or monoaminergic neurotransmitter systems (acute intermittent porphyria, maple syrup urine disease, urea cycle disorders, phenylketonuria and disorders of homocysteine metabolism). In this manuscript we review the evidence for neuropsychiatric illness in major metabolic disorders and discuss the possible models for how these disorders result in psychiatric symptoms. Treatment considerations are discussed, including treatment resistance, the increased propensity for side-effects and the possibility of some treatments worsening the underlying disorder.

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Conflict of interest

Dr Walterfang has served on a scientific advisory board and as a consultant for and received funding for travel from Actelion Pharmaceuticals Ltd; and received royalties from the publication of Kaplan and Sadock’s Comprehensive Textbook of Psychiatry (Lippincott Williams & Wilkins, 2009).

Dr Bonnot has served on a scientific advisory board and as a consultant for and received funding for travel from Actelion Pharmaceuticals Ltd and receives research support from the Ministry of Health, France.

Dr Mocellin reports no relevant disclosures.

Dr Velakoulis has received royalties from the publication of Kaplan and Sadock’s Comprehensive Textbook of Psychiatry (Lippincott Williams & Wilkins, 2009) and receives research support from NHMRC.

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Authors and Affiliations

  1. Melbourne Neuropsychiatry Centre, University of Melbourne and Melbourne Health, Parkville, Australia

    Mark Walterfang, Ramon Mocellin & Dennis Velakoulis

  2. Neuropsychiatry Unit, Royal Melbourne Hospital, Parkville, Australia

    Mark Walterfang, Ramon Mocellin & Dennis Velakoulis

  3. Department of Child and Adolescent Psychiatry CHU, University of Nantes, Nantes, France

    Olivier Bonnot

  4. Royal Melbourne Hospital, Level 2, John Cade Building, Parkville, 3050, Australia

    Mark Walterfang

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  1. Mark Walterfang
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Walterfang, M., Bonnot, O., Mocellin, R. et al. The neuropsychiatry of inborn errors of metabolism. J Inherit Metab Dis 36, 687–702 (2013). https://doi.org/10.1007/s10545-013-9618-y

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