Discovery of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency in Individuals With Common Psychiatric Comorbidities: A Retrospective Case Review.

INTRODUCTION: A retrospective analysis was conducted of a data set collected in an outpatient behavioral health clinic to assess medication metabolism and methylenetetrahydrofolate reductase (MTHFR) and to see if there was a correlation with certain diagnoses and/or gender. METHOD: The outpatient routine completed genetic testing on their patients and the test results were later collected through a third-party company, which completed the pharmacogenomic test analyzing genetic variations in DNA, medication metabolism, and an MTHFR deficiency. RESULTS: This study reviewed 186 patients seen in an outpatient setting who were tested for an MTHFR deficiency and compared their psychiatric diagnoses and the number of failed medication attempts. Of those 186 patients, 77 had normal MTHFR enzyme function, 85 were found to have a moderate MTHFR deficiency, and 24 had a severe MTHFR deficiency. Those with a severe MTHFR deficiency had a higher number of medication trials as compared to those without the deficiency and there were overall more patients with a moderate MTHFR deficiency in this data set. CONCLUSION: Currently, MTHFR deficiency is not commonly tested due to lack of insurance coverage and provider knowledge, and due to the cost of the test itself. Thus, the diagnosis can often be missed.

MTHFR Deficiency in Biological Siblings Diagnosed With Autism and Attention-Deficit Hyperactivity Disorder (ADHD): A Report of Two Cases.

Methylenetetrahydrofolate reductase is a critical enzyme that has been associated with several complex psychiatric mental health illnesses. The enzyme can be detected by bloodwork or a cheek swab and, once identified as lacking in individuals, can be treated by over-the-counter supplementation with folate. Due to a provider's limited information and/or the cost to cover the test, the deficiency is not regularly tested for, and, therefore, is missed and not treated. There are very limited studies that demonstrate the benefits of supplements in conjunction with psychotropic medications. This study discusses the case of two biological siblings diagnosed with attention-deficit hyperactivity disorder and autism, who presented with this unique deficiency and had improvement of symptoms once starting the supplement with their traditional psychopharmacological treatment.