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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 Encephalomyelopathy; Subacute Necrotizing Encephalopathy; 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: 601 relevant articles (14 outcomes, 40 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Mitochondrial Diseases (Mitochondrial Disease)
2. Seizures (Absence Seizure)
3. Respiratory Insufficiency (Respiratory Failure)
4. Obstructive Sleep Apnea
5. Hyperoxia

Experts

1. Murayama, Kei: 12 articles (12/2021 - 03/2010)
2. Ohtake, Akira: 10 articles (12/2021 - 10/2003)
3. Thorburn, David R: 10 articles (01/2019 - 10/2003)
4. Taylor, Robert W: 9 articles (01/2020 - 02/2002)
5. Enns, Gregory M: 8 articles (03/2015 - 08/2006)
6. Koopman, Werner J H: 7 articles (01/2022 - 07/2008)
7. Okazaki, Yasushi: 7 articles (12/2021 - 05/2014)
8. Mootha, Vamsi K: 7 articles (01/2021 - 09/2011)
9. Zeviani, Massimo: 7 articles (06/2020 - 02/2002)
10. Kohda, Masakazu: 6 articles (12/2021 - 05/2014)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Leigh Disease:
1. perampanelIBA
2. VitaminsIBA
3. UbiquinoneIBA
4. Thiamine (Aneurin)FDA Link
5. Enoyl-CoA HydrataseIBA
6. Biomarkers (Surrogate Marker)IBA
7. Carnitine (L-Carnitine)FDA LinkGeneric
8. 6- hydroxy- 2,5,7,8- tetramethylchroman- 2- carboxylic acid (Trolox)IBA
9. BezafibrateIBA
10. idebenoneIBA

Therapies and Procedures

1. Therapeutics
2. Terminal Care (Care, Terminal)
3. Immunotherapy
4. Anesthesia
5. Ketogenic Diet