Abstract
ObjectiveIt is important for psychiatrists to be aware of certain inborn errors of metabolism (IEMs) as these rare disorders can present as psychosis, and because definitive treatments may be available for treating the underlying metabolic cause. A systematic review was conducted to examine IEMs that often present with schizophrenia-like symptoms.Data sourcesPublished literature on MEDLINE was assessed regarding diseases of homocysteine metabolism (DHM; cystathionine beta-synthase deficiency [CbS-D] and homocysteinemia due to methyltetrahydrofolate reductase deficiency [MTHFR-D]), urea cycle disorders (UCD), acute porphyria (POR), Wilson disease (WD), cerebrotendinous-xanthomatosis (CTX) and Niemann-Pick disease type C (NP-C).Study selectionCase reports, case series or reviews with original data regarding psychiatric manifestations and cognitive impairment published between January 1967 and June 2012 were included based on a standardized four-step selection process.Data extractionAll selected articles were evaluated for descriptions of psychiatric signs (type, severity, natural history and treatment) in addition to key disease features.ResultsA total of 611 records were identified. Information from CbS-D (n = 2), MTHFR-D (n = 3), UCD (n = 8), POR (n = 12), WD (n = 11), CTX (n = 14) and NP-C publications (n = 9) were evaluated. Six non-systematic literature review publications were also included. In general, published reports did not provide explicit descriptions of psychiatric symptoms. The literature search findings are presented with a didactic perspective, showing key features for each disease and psychiatric signs that should trigger psychiatrists to suspect that psychotic symptoms may be secondary to an IEM.ConclusionIEMs with a psychiatric presentation and a lack of, or sub-clinical, neurological signs are rare, but should be considered in patients with atypical psychiatric symptoms.
Highlights
A range of medical conditions may be associated with schizophrenia-like psychosis [1]
The literature search findings are presented with a didactic perspective, showing key features for each disease and psychiatric signs that should trigger psychiatrists to suspect that psychotic symptoms may be secondary to an Inborn errors of metabolism (IEMs)
Based on a consensus reached during that meeting, the following seven IEMs were chosen as a focus for this review: homocysteinemia due to methyltetrahydrofolate reductase deficiency (MTHFR-D), cystathionine beta-synthase deficiency (CbS-D), urea cycle disorders (UCD), POR, Wilson disease (WD), Cerebrotendinous xanthomatosis (CTX) and Niemann-Pick disease type C (NP-C)
Summary
A range of medical conditions may be associated with schizophrenia-like psychosis [1]. The landmark review of psychosis associated with organic disorders by Davison and Bagley, which utilized the 1957 WHO operational criteria for schizophrenia, highlighted a number of disorders. A large study of 268 consecutive patients with firstepisode psychosis found that 6% had organic cerebral disease that was potentially causally linked with psychiatric symptoms [3], which emphasizes the importance of a thorough diagnostic evaluation to exclude underlying medical illness at first presentation. More than 60 different congenital conditions associated with psychosis were reviewed. The diagnosis of medical or neurological illnesses underlying psychosis is of great importance as many of these conditions are progressive or fatal, associated with significant additional medical comorbidity, and may be partially or entirely reversible with definitive treatment. Inborn errors of metabolism (IEMs) represent a particular focus for research as they are frequently underdetected or misdiagnosed, a number are treatable, and new diagnostic methods and therapies have become available
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