Leigh Disease (Leigh's Disease)

A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).
Also Known As:
Leigh's Disease; Leigh Syndrome; Subacute Necrotizing Encephalopathy; Subacute Necrotizing Encephalomyelopathy; Encephalomyelopathy, Subacute Necrotizing; Encephalopathy, Subacute Necrotizing, Infantile; Encephalopathy, Subacute Necrotizing, Juvenile; Infantile Leigh Disease; Infantile Subacute Necrotizing Encephalopathy; Juvenile Leigh Disease; Juvenile Subacute Necrotizing Encephalopathy; Leigh Disease, Infantile; Leigh Disease, Juvenile; Subacute Necrotizing Encephalomyelitis, Infantile; Subacute Necrotizing Encephalopathy, Infantile; Subacute Necrotizing Encephalopathy, Juvenile; Disease, Leigh's; Encephalomyelitides, Subacute Necrotizing; Encephalomyelopathies, Subacute Necrotizing; Encephalopathies, Subacute Necrotizing; Leighs Disease; Necrotizing Encephalomyelitides, Subacute; Necrotizing Encephalomyelitis, Subacute; Necrotizing Encephalomyelopathies, Subacute; Necrotizing Encephalomyelopathy, Subacute; Necrotizing Encephalopathies, Subacute; Necrotizing Encephalopathy, Subacute; Subacute Necrotizing Encephalomyelitides; Subacute Necrotizing Encephalomyelitis; Subacute Necrotizing Encephalomyelopathies; Subacute Necrotizing Encephalopathies; Encephalomyelitis, Subacute Necrotizing; Encephalopathy, Subacute Necrotizing
Networked: 402 relevant articles (5 outcomes, 25 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Respiratory Insufficiency (Respiratory Failure)
2. Obstructive Sleep Apnea
3. Mitochondrial Diseases (Mitochondrial Disease)
4. Lactic Acidosis
5. Ataxia (Dyssynergia)


1. Enns, Gregory M: 8 articles (03/2015 - 08/2006)
2. Thorburn, David R: 6 articles (11/2015 - 10/2003)
3. Zeviani, Massimo: 5 articles (10/2014 - 02/2002)
4. Rahman, Shamima: 4 articles (07/2015 - 11/2006)
5. Koopman, Werner J H: 4 articles (01/2015 - 07/2008)
6. Zhang, Yao: 4 articles (02/2013 - 03/2006)
7. DiMauro, Salvatore: 4 articles (01/2013 - 12/2002)
8. Robinson, Brian H: 4 articles (01/2013 - 08/2004)
9. Goto, Yu-Ichi: 4 articles (11/2012 - 03/2003)
10. Qi, Yu: 4 articles (10/2012 - 03/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Leigh Disease:
1. VitaminsIBA
2. Dichloroacetate (Dichloroacetic Acid)IBA
3. UbiquinoneIBA
4. Thiamine (Aneurin)FDA Link
5. Carnitine (L-Carnitine)FDA LinkGeneric
6. idebenoneIBA
7. Mitochondrial DNA (mtDNA)IBA
8. Adenosine Triphosphatases (ATPase)IBA
9. DNA (Deoxyribonucleic Acid)IBA
10. Pyruvate CarboxylaseIBA

Therapies and Procedures

1. Anesthesia
2. Ketogenic Diet
3. Optical Devices
4. Fundoplication
5. Kidney Transplantation