ReviewJournal of inherited metabolic disease2013
The neuropsychiatry of inborn errors of metabolism.
Review in Journal of inherited metabolic disease, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
42 citing papers in PubMed, 2 syntheses or guidelines pooled it, 101 citations in OpenAlex.
- Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review.Orphanet journal of rare diseases · 2014Pooled it
- Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review.Orphanet journal of rare diseases · 2014Pooled it
- Wilson Disease Hiding in Plain Sight: A Case Report of Psychosis and Catatonia Revealing Underlying Liver Dysfunction.Reports (MDPI) · 2025Article
- Think classical homocystinuria if the genetic test did not confirm Marfan syndrome: Late diagnosis and phenotypic variability in adult siblings with classical homocystinuria.Molecular genetics and metabolism reports · 2025Article
- Psychotic attack during the clinical course of megalencephalic leukoencephalopathy with subcortical cysts: a case report.European child & adolescent psychiatry · 2025Article
- Chorea in Hereditary Leukodystrophies - Overview of Two Cases.Tremor and other hyperkinetic movements (New York, N.Y.) · 2025Article
- Enhanced mGluRCell death & disease · 2024Article
- Psychiatric Manifestations in Children and Adolescents with Inherited Metabolic Diseases.Journal of clinical medicine · 2024Review
- Long-term outcomes in two adult siblings with Fucosidosis - Diagnostic odyssey and clinical manifestations.Molecular genetics and metabolism reports · 2023Article
- Insight into adult-onset metachromatic leukodystrophy with optic atrophy: A comprehensive case report.Radiology case reports · 2023Article
- Metabolomic disorders: confirmed presence of potentially treatable abnormalities in patients with treatment refractory depression and suicidal behavior.Psychological medicine · 2023Article
- Psychosis Caused by a Somatic Condition: How to Make the Diagnosis? A Systematic Literature Review.Children (Basel, Switzerland) · 2023Review
- Catatonia in autism and other neurodevelopmental disabilities: a state-of-the-art review.Npj mental health research · 2022Review
- Administration of branched-chain amino acids alters epigenetic regulatory enzymes in an animal model of Maple Syrup Urine Disease.Metabolic brain disease · 2021Article
- Case Report: "Niemann-Pick Disease Type C in a Catatonic Patient Treated With Electroconvulsive Therapy".Frontiers in psychiatry · 2021Article
- Brain Branched-Chain Amino Acids in Maple Syrup Urine Disease: Implications for Neurological Disorders.International journal of molecular sciences · 2020Review
- A novel heterozygous mutation in the HMBS gene in a patient with acute intermittent porphyria and posterior reversible encephalopathy syndrome.Molecular medicine reports · 2020Article
- Clinical and biochemical footprints of inherited metabolic diseases. III. Psychiatric presentations.Molecular genetics and metabolism · 2020Review
- Nosology and Phenomenology of Psychosis in Movement Disorders.Movement disorders clinical practice · 2020Review
- Lysosomal Diseases and Neuropsychiatry: Opportunities to Rebalance the Mind.Frontiers in molecular biosciences · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.