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The Psychiatric Manifestations of Mitochondrial Disorders: A Case and Review of the Literature

Rebecca E. Anglin, MD, FRCP(C); Sarah L. Garside, MD, PhD, FRCP(C); Mark A. Tarnopolsky, MD, PhD, FRCP(C); Michael F. Mazurek, MD, FRCP(C); and Patricia I. Rosebush, MScN, MD, FRCP(C)

Published: April 15, 2012

Article Abstract

Objective: Mitochondrial disorders are caused by gene mutations in mitochondrial or nuclear DNA and affect energy-dependent organs such as the brain. Patients with psychiatric illness, particularly those with medical comorbidities, may have primary mitochondrial disorders. To date, this issue has received little attention in the literature, and mitochondrial disorders are likely underdiagnosed in psychiatric patients.

Data Sources: This article describes a patient who presented with borderline personality disorder and treatment-resistant depression and was ultimately diagnosed with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) 3271. We also searched the literature for all case reports of patients with mitochondrial disorders who initially present with prominent psychiatric symptoms by using MEDLINE (from 1948-February 2011), Embase (from 1980-February 2011), PsycINFO (from 1806-February 2011), and the search terms mitochondrial disorder, mitochondria, psychiatry, mental disorders, major depression, anxiety, schizophrenia, and psychosis.

Study Selection: Fifty cases of mitochondrial disorders with prominent psychiatric symptomatology were identified.

Data Extraction: Information about the psychiatric presentation of the cases was extracted. This information was combined with our case, the most common psychiatric manifestations of mitochondrial disorders were identified, and the important diagnostic and treatment implications for patients with psychiatric illness were reviewed.

Results: The most common psychiatric presentations in the cases of mitochondrial disorders included mood disorder, cognitive deterioration, psychosis, and anxiety. The most common diagnosis (52% of cases) was a MELAS mutation. Other genetic mitochondrial diagnoses included polymerase gamma mutations, Kearns-Sayre syndrome, mitochondrial DNA deletions, point mutations, twinkle mutations, and novel mutations.

Conclusions: Patients with mitochondrial disorders can present with primary psychiatric symptomatology, including mood disorder, cognitive impairment, psychosis, and anxiety. Psychiatrists need to be aware of the clinical features that are indicative of a mitochondrial disorder, investigate patients with suggestive presentations, and be knowledgeable about the treatment implications of the diagnosis.

J Clin Psychiatry 2012;73(4):506-512

Submitted: June 30, 2011; accepted September 6, 2011. (doi:10.4088/JCP.11r07237).

Corresponding author: Rebecca E. Anglin, MD, FRCP(C), F413-1 Fontbonne Bldg, St Joseph’s Healthcare, 50 Charlton Ave E, Hamilton, Ontario, L8N 4A6 (

Volume: 73

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