Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review

被引：44

作者：

Bonnot, Olivier ^{[1
,10
]}

Kluenemann, Hans Hermann ^{[2
]}

Sedel, Frederic ^{[3
,4
]}

Tordjman, Sylvie ^{[5
]}

Cohen, David ^{[6
,7
]}

Walterfang, Mark ^{[8
,9
]}

机构：

[1] CHU Nantes, Hop Mere Enfant, Dept Child & Adolescent Psychiat, 7 Quai Moncousu, F-44000 Nantes, France

[2] Univ Regensburg Bezirksklinikum, Klin & Poliklin Psychiat Psychosomat & Psychother, Regensburg, Germany

[3] Grp Hosp Pitie Salpetriere, Dept Neurol, F-75634 Paris, France

[4] Grp Hosp Pitie Salpetriere, Reference Ctr Lysosomal Dis, F-75634 Paris, France

[5] Univ Rennes, Ctr Hosp Guillaume Regnier, Dept Child & Adolescent Psychiat, Rennes, France

[6] Grp Hosp Pitie Salpetriere, Dept Child & Adolescent Psychiat, F-75634 Paris, France

[7] Grp Hosp Pitie Salpetriere, Reference Ctr Rare Dis Psychiat Symptoms, F-75634 Paris, France

[8] Royal Melbourne Hosp, Neuropsychiat Unit, Melbourne, Vic, Australia

[9] Univ Melbourne, Melbourne Neuropsychiat Ctr, Melbourne, Vic, Australia

[10] GDR3557 Inst Psychiat, Paris, France

来源：

ORPHANET JOURNAL OF RARE DISEASES | 2014年 / 9卷

关键词：

Inborn errors of metabolism; Organic psychosis; Schizophrenia-like symptoms; Atypical psychosis; NIEMANN-PICK-DISEASE; ACUTE INTERMITTENT PORPHYRIA; UREA CYCLE DISORDERS; CEREBROTENDINOUS-XANTHOMATOSIS; WILSONS-DISEASE; PSYCHIATRIC MANIFESTATIONS; INBORN-ERRORS; LATE-ONSET; C DISEASE; METHYLENETETRAHYDROFOLATE REDUCTASE;

D O I：

10.1186/1750-1172-9-65

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Objective: It 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 sources: Published 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 selection: Case 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 extraction: All selected articles were evaluated for descriptions of psychiatric signs (type, severity, natural history and treatment) in addition to key disease features. Results: A 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. Conclusion: IEMs 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.

引用

页数：14

共 151 条

[1] PSYCHIATRIC MANIFESTATIONS OF HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY - PREVALENCE, NATURAL-HISTORY, AND RELATIONSHIP TO NEUROLOGIC IMPAIRMENT AND VITAMIN-B6-RESPONSIVENESS [J].