Psychiatric Symptoms Associated with Inborn Errors of Metabolism

  title={Psychiatric Symptoms Associated with Inborn Errors of Metabolism},
  author={Susan Beckwitt Turkel and Derek Wong and Linda Marie Randolph},
  journal={SN Comprehensive Clinical Medicine},
  pages={1646 - 1660}
Inborn errors of metabolism (IEM) are individually rare but collectively common disorders, occurring in 1:800 to 1:1000 births. There are more than 1000 known inherited disorders characterized by disruption of metabolic pathways which may present with diverse symptoms affecting any organ at any age, including with psychiatric symptoms mimicking primary psychiatric disorders. This review is intended to help psychiatrists and other physicians suspect an inborn error of metabolism in a patient… 
1 Citations
Qualitative Analysis of standard Amino acid by Thin Layer Chromatography in examination of Inborn Errors of Metabolism
The present work introduced a separation method of standard amino acid that could be effective for the detection amino acid disorder by producing distinguishable strategies based on silica gel TLC plates.


Psychiatric signs and symptoms in treatable inborn errors of metabolism
  • S. Nia
  • Medicine, Psychology
    Journal of Neurology
  • 2014
Underlying organic causes of psychiatric disorders such as psychosis should be considered among patients with atypical symptoms and/or resistance to standard therapy, as well as in patients with suspected organic disease.
The neuropsychiatry of inborn errors of metabolism
The evidence for neuropsychiatric illness in major metabolic disorders and the possible models for how these disorders result in psychiatric symptoms are reviewed and treatment considerations are discussed.
Secondary psychosis induced by metabolic disorders
A detailed overview at schizophrenia-like and autism-like symptoms that can lead practitioners to bear in mind an IEM is proposed, and an accurate IEM diagnosis, in front of these psychiatric symptoms should be a priority.
Psychiatric manifestations of treatable hereditary metabolic disorders in adults
Detecting psychiatric disorders of secondary origin is a crucial concern for the psychiatrist. But how can this reliably be done among a large number of conditions, most of which have a very low
Enrichment of pathogenic variants in genes associated with inborn errors of metabolism in psychiatric populations
The results of this study support that pathogenic variants in genes associated with IEMs are enriched in psychiatric populations and suggest that underlying undiagnosed I EMs could account for the psychiatric symptomatology in a subset of psychiatric patients.
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Patients with mitochondrial disorders can present with primary psychiatric symptomatology, including mood disorder, cognitive impairment, psychosis, and anxiety, and psychiatrists need to be aware of the clinical features that are indicative of a mitochondrial disorder and be knowledgeable about the treatment implications.
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This review describes different psychiatric and behavioral manifestations encountered in individuals with LSDs, including psychosis, schizophrenia, mood disorders, aggressiveness, early‐onset dementia, and conduct disorder.
Psychiatric adult-onset of urea cycle disorders: A case-series
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