Clinical and biochemical footprints of inherited metabolic diseases. III. Psychiatric presentations

Mol Genet Metab. 2020 May;130(1):1-6. doi: 10.1016/j.ymgme.2020.02.007. Epub 2020 Feb 21.

Abstract

Psychiatric symptoms are common manifestations in many inborn errors of metabolism (IEMs), ranging from attention deficit, anxiety and mood and behavioral disorders to psychosis. Furthermore, IEMs represent a significant percentage of all autism cases. We reviewed and updated the list of metabolic disorders known to be associated with various psychiatric manifestations and found more than 100 relevant IEMs. This represents the third of a series of articles attempting to create and maintain a comprehensive list of clinical and metabolic differential diagnoses according to organ system involvement.

Keywords: Aggressive behavior; Anxiety; Autism spectrum disorder; Behavioral disorder; Depression; Hyperactivity; Inborn errors of metabolism; Obsessive compulsive disorder; Psychiatric disorders; Psychosis.

Publication types

  • Review

MeSH terms

  • Aggression / psychology
  • Anxiety / complications*
  • Anxiety / diagnosis
  • Anxiety / genetics
  • Anxiety / metabolism
  • Attention Deficit Disorder with Hyperactivity / complications*
  • Attention Deficit Disorder with Hyperactivity / diagnosis
  • Attention Deficit Disorder with Hyperactivity / genetics
  • Attention Deficit Disorder with Hyperactivity / metabolism
  • Autism Spectrum Disorder / complications*
  • Autism Spectrum Disorder / diagnosis
  • Autism Spectrum Disorder / genetics
  • Biomarkers / blood
  • Biomarkers / cerebrospinal fluid
  • Biomarkers / metabolism
  • Bipolar Disorder / complications*
  • Bipolar Disorder / diagnosis
  • Diagnosis, Differential
  • Humans
  • Metabolic Diseases / complications
  • Metabolic Diseases / physiopathology
  • Metabolism, Inborn Errors / complications
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / genetics

Substances

  • Biomarkers