Brain & Nervous System More Neurological Diseases What Is Leigh's Disease? By Mary Kugler, RN Mary Kugler, RN, is a pediatric nurse whose specialty is caring for children with long-term or severe medical problems. Learn about our editorial process Mary Kugler, RN Medically reviewed by Medically reviewed by Claudia Chaves, MD on September 16, 2019 Claudia Chaves, MD, is board-certified in cerebrovascular disease and neurology with a subspecialty certification in vascular neurology. She is an associate professor of neurology at Tufts Medical School and medical director of the Lahey Clinic Multiple Sclerosis Center in Lexington, Massachusetts. Learn about our Medical Review Board Claudia Chaves, MD Updated on April 20, 2021 Print Leigh's disease is an inherited metabolic disorder that damages the central nervous system (brain, spinal cord, and optic nerves). Leigh's disease is caused by problems in the mitochondria, the energy centers in the body's cells. A genetic disorder that causes Leigh's disease can be inherited in three different ways. It may be inherited on the X (female) chromosome as a genetic deficiency of an enzyme called pyruvate dehydrogenase complex (PDH-Elx). It could also be inherited as an autosomal recessive condition that affects the assembly of an enzyme called cytochrome-c-oxidase (COX). And finally, it may be inherited as a mutation in the DNA in the cell mitochondria. simarik / Getty Images Leigh's Disease Symptoms The symptoms of Leigh's disease usually begin between the ages of 3 months and 2 years. Since the disease affects the central nervous system, symptoms may include: Poor sucking ability Difficulty holding up the head Losing motor skills the infant had such as grasping a rattle and shaking it Loss of appetite Vomiting Irritability Continuous crying Seizures As Leigh's disease becomes worse over time, the symptoms may include: Generalized weakness Lack of muscle tone (hypotonia) Episodes of lactic acidosis (accumulation of lactic acid in the body and brain) that may impair breathing and kidney function Heart problems Diagnosis Diagnosis of Leigh's disease is based on specific symptoms. Tests may show a deficiency of pyruvate dehydrogenase or the presence of lactic acidosis. Individuals with Leigh's disease may have symmetrical patches of damage in the brain that may be discovered by a brain scan. In some individuals, genetic testing may be able to identify the presence of a genetic mutation. Treatment Treatment of Leigh's disease usually includes vitamins such as thiamine (vitamin B1). Other treatments may focus on the symptoms present, such as anti-seizure drugs or heart or kidney medicines. Physical, occupational, and speech therapy can help a child reach his or her developmental potential. Was this page helpful? Thanks for your feedback! Sign up for our Health Tip of the Day newsletter, and receive daily tips that will help you live your healthiest life. Sign Up You're in! Thank you, {{form.email}}, for signing up. There was an error. Please try again. What are your concerns? Other Inaccurate Hard to Understand Submit Article Sources Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read our editorial process to learn more about how we fact-check and keep our content accurate, reliable, and trustworthy. National Organization for Rare Disorders. Leigh Syndrome. Causes. National Institutes of Health. National Organization for Neurological Disorders and Stroke. NINDS Leigh's Disease Information Page. 13 Feb 2007.