ReviewAnnals of general psychiatry2014
Psychiatric manifestations of treatable hereditary metabolic disorders in adults.
Review in Annals of general psychiatry, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 68 citations in OpenAlex.
- Adult ADHD and Comorbid Somatic Disease: A Systematic Literature Review.Journal of attention disorders · 2018Pooled it
- Potential for Genomics to Help Guide Preventive Strategies in Psychiatry.JAMA psychiatry · 2026Article
- From Plate to Mind: Scientific Perspectives on Foods That May Influence Anxiety and Depression.Nutrients · 2026Review
- The long way to diagnosis: attention disorder, alcohol addiction or congenital disorder of glycosylation? A case report.BMC psychiatry · 2025Article
- Psychosis Caused by a Somatic Condition: How to Make the Diagnosis? A Systematic Literature Review.Children (Basel, Switzerland) · 2023Review
- Neurological-Type Wilson Disease: Epidemiology, Clinical Manifestations, Diagnosis, and Management.Cureus · 2023Review
- Review
- A Case of Acute Intermittent Porphyria Leading to Severe Disability in a Young 21-Year-Old Female.Cureus · 2023Article
- Neurodevelopmental and neuropsychiatric disorders in cobalamin C disease: a case report and review of the literature.Cold Spring Harbor molecular case studies · 2022Review
- Obsessive-Compulsive Symptoms as a Manifestation of Homocystinuria.Case reports in psychiatry · 2021Article
- High Rates of Genetic Diagnosis in Psychiatric Patients with and without Neurodevelopmental Disorders: Toward Improved Genetic Diagnosis in Psychiatric Populations.Canadian journal of psychiatry. Revue canadienne de psychiatrie · 2020Article
- Acute intermittent porphyria: focus on possible mechanisms of acute and chronic manifestations.Intractable & rare diseases research · 2020Review
- 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
- Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis.Orphanet journal of rare diseases · 2019Article
- Article
- Developmental Delay, Treatment-Resistant Psychosis, and Early-Onset Dementia in a Man With 22q11 Deletion Syndrome and Huntington's Disease.The American journal of psychiatry · 2018Article
- Psychiatric Aspects of Acute Porphyria: a Comprehensive Review.Current psychiatry reports · 2018Review
- Psychiatric adult-onset of urea cycle disorders: A case-series.Molecular genetics and metabolism reports · 2017Article
- Screening of Wilson's disease in a psychiatric population: difficulties and pitfalls. A preliminary study.Annals of general psychiatry · 2017Article
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 prevalence? Metabolic screening undertaken in a population of subjects with psychosis demonstrated the presence of treatable metabolic disorders in a significant number of cases. The nature of the symptoms that should alert the clinician is also a fundamental issue and is not limited to psychosis. Hereditary metabolic disorders (HMD) are a rare but important cause of psychiatric disorders in adolescents and adults, the signs of which may remain isolated for years before other more specific organic signs appear. HMDs that present purely with psychiatric symptoms are very difficult to diagnose due to low awareness of these rare diseases among psychiatrists. However, it is important to identify HMDs in order to refer patients to specialist centres for appropriate management, disease-specific treatment and possible prevention of irreversible physical and neurological complications. Genetic counselling can also be provided. This review focuses on three HMD categories: acute, treatable HMDs (urea cycle abnormalities, remethylation disorders, acute intermittent porphyria); chronic, treatable HMDs (Wilson's disease, Niemann-Pick disease type C, homocystinuria due to cystathionine beta-synthase deficiency, cerebrotendinous xanthomatosis); and chronic HMDs that are difficult to treat (lysosomal storage diseases, X-linked adrenoleukodystrophy, creatine deficiency syndrome). We also propose an algorithm for the diagnosis of HMDs in patients with psychiatric symptoms.
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