Abstract

Metabolic disorders are not well-recognized by psychiatrists as a possible source of secondary psychoses. Inborn errors of metabolism (IEMs) are not frequent. Although their prompt diagnosis may lead to suitable treatments. IEMs are well-known to pediatricians, in particular for their most serious forms, having an early expression most of the time. Recent years discoveries have unveiled later expression forms, and sometimes very discreet first physical signs. There is a growing body of evidence that supports the hypothesis that IEMs can manifest as atypical psychiatric symptoms, even in the absence of clear neurological symptoms. In the present review, we propose a detailed overview at schizophrenia-like and autism-like symptoms that can lead practitioners to bear in mind an IEM. Other psychiatric manifestations are also found, as behavioral, cognitive, learning, and mood disorders. However, they are less frequent. Ensuring an accurate IEM diagnosis, in front of these psychiatric symptoms should be a priority, in order to grant suitable and valuable treatment for these pathologies.

Highlights

  • The Neurometabolic Diseases (NMDs), known as Inborn Errors of Metabolism (IEMs), are genetic disorders affecting, for most of them, the conversion of a substrate into a product by an enzyme.An insufficient enzyme production can cause the accumulation of the substrate and the absence or depletion of the final expected product

  • Data sources has been explored on published literature (MEDLINE sources) inspecting Disorders of Homocysteine Metabolism (DHMs): cystathionine beta-synthase deficiency [Cystathionine beta synthase deficiency (CbS)-D] and methyltetrahydrofolate reductase deficiency [MTHFR-D], acute porphyria (POR), urea cycle disorders (UCD), cerebrotendinous-xanthomatosis (CTX), Wilson disease (WD), and Niemann-Pick disease type C (NP-C)

  • Based on collected data and literature review on clinical observations, we propose a comprehensive list of atypicalness key signs and useful warning signs leading to the search for organic pathology, especially a neurometabolic disease

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Summary

Introduction

The Neurometabolic Diseases (NMDs), known as Inborn Errors of Metabolism (IEMs), are genetic disorders affecting, for most of them, the conversion of a substrate into a product by an enzyme. This simplified representation may warrant a reasonable explanation to the extreme diversity of organ damages found in the NMDs. the absence of an essential product from birth, or the accumulation of deleterious product may have a massive impact on the brain. The absence of an essential product from birth, or the accumulation of deleterious product may have a massive impact on the brain This pathological situation can explain the frequency of neurological or psychiatric signs, and the presence of anomalies found in other organs, or vice versa. Once the metabolic disease is recognized, it is possible to adopt simple therapeutic strategies For some conditions, this may imply dietary changes in order to avoid non-degradable substrate accumulation, or increasing the intake of an absent product, sometimes a humble vitamin. We are going to focus on NDMs leading to schizophrenia like symptoms and some developmental disorders

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