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Leigh Disease (Leigh's Disease)

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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)

Experts

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 01/01/1987 - "Based on this study we are of the opinion that it is possible to come to a diagnosis of "most probable Leigh syndrome" durante vitamin on the combination of clinical signs and symptoms, autosomal recessive mode of inheritance, association with a defect of energy metabolism, and CT or MRI abnormalities." 07/01/2015 - "With the exception of a few rare vitamin/cofactor responsive conditions (including ACAD9 deficiency, disorders of coenzyme Q(10) biosynthesis, and Leigh syndrome caused by mutations in the SLC19A3 transporter), the mainstay of treatment for the vast majority of patients involves supportive measures. " 12/01/2013 - "Medical treatment with thiamine, coenzyme Q, vitamins E and C, and carnitine improved obstructive sleep apnea in an adult case of Leigh disease."
2.	Dichloroacetate (Dichloroacetic Acid)IBA 07/01/2002 - "Thus dichloroacetate treatment, although limited, was effective for T8993C-associated Leigh syndrome." 12/01/1995 - "Brain lesions exhibited on MRI and CT scan in 2 patients with mitochondrial encephalomyelopathy representing Leigh syndrome were improved by administration of dichloroacetate (DCA). " 04/01/2009 - "Treatment for Leigh syndrome by monitoring dichloroacetate concentration." 07/01/2002 - "Dichloroacetate therapy in Leigh syndrome with a mitochondrial T8993C mutation." 12/01/1995 - "Improvement of lesions shown on MRI and CT scan by administration of dichloroacetate in patients with Leigh syndrome."
3.	UbiquinoneIBA 01/01/2007 - "Coenzyme Q(10) (CoQ) deficiency is an autosomal recessive disorder presenting five phenotypes: a myopathic form, a severe infantile neurological syndrome associated with nephritic syndrome, an ataxic variant, Leigh syndrome and a pure myopathic form. " 07/01/2009 - "Three representative cases have been selected: one with COX deficiency and a Leigh syndrome due to a SURF1 gene mutation, one due to a defect of Coenzyme Q synthesis and one with dominant optic atrophy due to a mutation in the OPA1 gene. " 07/01/2015 - "With the exception of a few rare vitamin/cofactor responsive conditions (including ACAD9 deficiency, disorders of coenzyme Q(10) biosynthesis, and Leigh syndrome caused by mutations in the SLC19A3 transporter), the mainstay of treatment for the vast majority of patients involves supportive measures. " 01/01/1990 - "Two infants who had clinical and radiographic findings consistent with Leigh syndrome were found to have deficiency of complex I (reduced nicotinamide-adenine dinucleotide--coenzyme Q reductase) activity. " 01/01/1990 - "Complex I (reduced nicotinamide-adenine dinucleotide-coenzyme Q reductase) deficiency in two patients with probable Leigh syndrome."
4.	Thiamine (Aneurin)FDA Link 01/01/2015 - "Basal ganglia involvement (consistent with Leigh disease) was found in four patients (including 2/4 thiamine-responsive patients). " 01/01/2014 - "The clinical characteristics distinguishing treatable thiamine transporter-2 deficiency (ThTR2) due to SLC19A3 genetic defects from the other devastating causes of Leigh syndrome are sparse. " 04/01/1973 - "Thiamine derivatives in subacute necrotizing encephalomyelopathy. " 01/01/2015 - "Thiamine responsiveness is more likely in patients presenting at age >12 months with relapsing ataxia and possibly Leigh syndrome than in those presenting with neonatal lactic acidosis and corpus callosum abnormalities. " 01/01/2015 - "We conclude that patients presenting at age >12 months with relapsing ataxia and possibly Leigh syndrome are more likely to be thiamine responsive than those presenting with neonatal lactic acidosis and corpus callosum abnormalities. "
5.	Carnitine (L-Carnitine)FDA LinkGeneric 06/01/2001 - "Carnitine-responsive carnitine insufficiency in a case of mtDNA 8993T>C mutation associated Leigh syndrome." 12/01/2013 - "Medical treatment with thiamine, coenzyme Q, vitamins E and C, and carnitine improved obstructive sleep apnea in an adult case of Leigh disease."
6.	idebenoneIBA 03/15/2009 - "Idebenone may be worth trying in patients with Leigh syndrome." 03/15/2009 - "Here, we report successful treatment of a patient with Leigh syndrome using idebenone, a derivative of coenzyme Q-10. " 03/15/2009 - "Efficacy of idebenone for respiratory failure in a patient with Leigh syndrome: a long-term follow-up study."
7.	Mitochondrial DNA (mtDNA)IBA 01/01/2007 - "G8363A mitochondrial DNA mutation is not a rare cause of Leigh syndrome - clinical, biochemical and pathological study of an affected child." 01/01/2000 - "This study aimed to understand the pathogenesis of a new mtDNA-related etiology of Leigh syndrome. " 09/01/1997 - "This study supports the concept that prenatal diagnosis can be used for Leigh syndrome with the T8993G mitochondrial DNA mutation." 08/13/2015 - "Although Leigh-NT1 PSCs contained donor oocyte wild-type mtDNA (human haplotype D4a) that differed from Leigh syndrome patient haplotype (F1a) at a total of 47 nucleotide sites, Leigh-NT1 cells displayed transcriptomic profiles similar to those in embryo-derived PSCs carrying wild-type mtDNA, indicative of normal nuclear-to-mitochondrial interactions. " 08/13/2015 - "Isogenic MELAS and Leigh syndrome iPS cell lines were generated containing exclusively wild-type or mutant mtDNA through spontaneous segregation of heteroplasmic mtDNA in proliferating fibroblasts. "
8.	Adenosine Triphosphatases (ATPase)IBA 06/01/2004 - "Neuropathological study of a 3 1/2 year old girl with familial Leigh syndrome who also harboured a rare ATPase gene mutation disclosed extensive and unusual lesions in the cerebral cortex, despite a typical histological pattern. " 01/01/2014 - "He was diagnosed with Leigh syndrome due to a maternally inherited homoplasmic m.8993T>G mutation in the ATPase 6 gene. " 06/01/2009 - "Altogether, Leigh syndrome presenting the T8993G mutation in the ATPase 6 gene with variable heteroplasmic loads (44-98%) in a single Tunisian family is a novel finding." 01/01/2007 - "A previously undescribed leukodystrophy in Leigh syndrome associated with T9176C mutation of the mitochondrial ATPase 6 gene." 01/01/2002 - "A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome."
9.	DNA (Deoxyribonucleic Acid)IBA 02/01/2013 - "In this study, four Chinese boys with Leigh syndrome due to complex I deficiency were diagnosed by mitochondrial respiratory chain enzyme assay and DNA analysis using peripheral blood leukocytes. " 02/01/2013 - "Mitochondrial respiratory chain enzyme assay and DNA analysis in peripheral blood leukocytes for the etiological study of Chinese children with Leigh syndrome due to complex I deficiency." 03/01/1998 - "This study reports on a patient with Leigh syndrome with a T-to-C mutation at nucleotide 8993 of mitochondrial deoxyribonucleic acid (T8993C). " 12/01/2013 - "In addition, mitochondrial deoxyribonucleic acid sequencing showed a novel homoplasmic variant that could be responsible for this unique lethal form of Leigh syndrome. " 06/01/2010 - "Diagnosis of Leigh syndrome due to T8993G mutation was confirmed with polymerase chain reaction and direct DNA sequencing of mitochondrial genome. "
10.	Pyruvate CarboxylaseIBA 10/01/1973 - "Renal function studies and kidney pyruvate carboxylase in subacute necrotizing encephalomyelopathy (Leigh's syndrome)." 04/01/1984 - "Pyruvate carboxylase activity in subacute necrotizing encephalopathy (Leigh's disease)." 01/01/1980 - "In a patient with the clinical symptoms of Leigh's disease a partial deficiency of hepatic pyruvate carboxylase and pyruvate decarboxylase was found at necropsy. " 01/01/1980 - "Leigh's disease with decreased activities of pyruvate carboxylase and pyruvate decarboxylase." 03/01/1982 - "Studies on pyruvate carboxylase, pyruvate decarboxylase and lipoamide dehydrogenase in subacute necrotizing encephalomyelopathy."

Therapies and Procedures

1.	Anesthesia 01/01/2006 - "Anesthesia or sedation has rarely been reported in patients with Leigh disease. " 11/01/2003 - "Anesthesia for corrective spinal surgery in a patient with Leigh's disease." 01/01/2005 - "Outpatient anesthesia for oral surgery in a juvenile with Leigh disease." 11/01/2003 - "We report a case of anesthesia for posterior spinal fusion in a woman with Leigh's disease. " 01/01/2005 - "We report a case of anesthesia for elective outpatient third molar extraction in a juvenile with Leigh disease, a progressive neurodegenerative disorder related to respiratory chain deficiency. "
2.	Ketogenic Diet 06/01/1992 - "Leigh syndrome associated with a deficiency of the pyruvate dehydrogenase complex: results of treatment with a ketogenic diet."
3.	Optical Devices 06/01/1981 - "We report on the pathomorphological findings in the optical system, including the ocular muscles, of a girl who died at the age of 15 of subacute necrotizing encephalomyelopathy (Leigh). " 06/01/1981 - "[Involvement of the optical system and ocular muscle nuclear in subacute necrotizing encephalomyelopathy (Leigh) from a pathomorphological point of view (author's transl)]."
4.	Fundoplication 11/01/2008 - "Perioperative anesthetic managements for the laryngo-tracheal separation and open fundoplication in a 17-year-old patient with Leigh syndrome."
5.	Kidney Transplantation 09/01/2008 - "He was subsequently diagnosed with Leigh syndrome and required a kidney transplantation for end-stage renal failure. "