Brain & Nervous System More Neurological Diseases What Is Leigh's Disease? By Mary Kugler, RN 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 Updated on January 28, 2022 Medically reviewed by Nicholas R. Metrus, MD Medically reviewed by Nicholas R. Metrus, MD LinkedIn Nicholas R. Metrus, MD, is a board-certified neurologist and neuro-oncologist. He currently serves at the Glasser Brain Tumor Center in Summit, New Jersey. Learn about our Medical Expert Board 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 abilityDifficulty holding up the headLosing motor skills the infant had such as grasping a rattle and shaking itLoss of appetiteVomitingIrritabilityContinuous cryingSeizures As Leigh's disease becomes worse over time, the symptoms may include: Generalized weaknessLack of muscle tone (hypotonia)Episodes of lactic acidosis (accumulation of lactic acid in the body and brain) that may impair breathing and kidney functionHeart 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. 2 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. By Mary Kugler, RN Mary Kugler, RN, is a pediatric nurse whose specialty is caring for children with long-term or severe medical problems. See Our Editorial Process Meet Our Medical Expert Board Share Feedback Was this page helpful? Thanks for your feedback! What is your feedback? Other Helpful Report an Error Submit