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.