ArticleEuropean child & adolescent psychiatry2014
A forgotten lethal psychosis: a case report.
Article in European child & adolescent psychiatry, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.Journal of inherited metabolic disease · 2017Pooled it
- Thoracic Aortic Dissection in a Patient With Classical Homocystinuria: Implications for Aortic Surveillance.JIMD reports · 2026Article
- Delay in Diagnosis of Classical Homocystinuria.JIMD reports · 2026Article
- Psychiatric Manifestations in Children and Adolescents with Inherited Metabolic Diseases.Journal of clinical medicine · 2024Review
- Cystathionine Beta-Synthase Deficiency: Three Consecutive Cases Detected in 40 Days by Newborn Screening in Emilia Romagna (Italy) and a Comprehensive Review of the Literature.Children (Basel, Switzerland) · 2023Article
- Revising the Psychiatric Phenotype of Homocystinuria.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Oxidative Stress in Homocystinuria Due to Cystathionine ß-Synthase Deficiency: Findings in Patients and in Animal Models.Cellular and molecular neurobiology · 2017Review
- A Case of Homocystinuria Misdiagnosed as Moyamoya Disease: A Case Report.Iranian Red Crescent medical journal · 2016Article
- Acute psychosis in an adolescent with undiagnosed homocystinuria.European journal of pediatrics · 2015Article
- Dimensionality of childhood psychopathology and the challenge of integration into clinical practice.European child & adolescent psychiatry · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Homocystinuria due to cystathionine β-synthase deficiency is an inborn error of metabolism first described almost 50 years ago, which involves the accumulation of plasma homocysteine and other metabolites. Without early detection and appropriate treatment, common and sometimes lethal consequences include ocular abnormalities, osteoporosis, developmental delays, marfanoid phenotype, vascular disease, and mental retardation. Almost 50% of subjects develop a psychiatric disorder during their life, but only 2.8% present a psychiatric symptom as the initial manifestation. Among this group, psychotic disorders are infrequent. We describe the case of a 17-year-old boy presenting with a first episode psychosis and an unknown homocystinuria due to cystathionine β-synthase deficiency, which led to a lethal outcome.
Indexed as
Identifiers
23812867What OpenQuestion holds
Registered trials
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.