Visceral myopathy familial external ophthalmoplegia

Also Known As:

Intestinal pseudoobstruction with external ophthalmoplegia; MNGIE Disease; MNGIE Syndrome; Mitochondrial DNA Depletion Syndrome 1; Mitochondrial DNA Depletion Syndrome 8A; Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Renal Tubulopathy, Autosomal Recessive; Mitochondrial Myopathy with Sensorimotor Polyneuropathy, Ophthalmoplegia, and Pseudo-Obstruction; Mitochondrial Neurogastrointestinal Encephalopathy Disease; Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Rrm2b-Related; Mitochondrial neurogastrointestinal encephalopathy syndrome; Mngie Without Leukoencephalopathy; Mngie, Rrm2b-Related; Muscular dystrophy, oculogastrointestinal; Myoneurogastrointestinal encephalopathy syndrome; Oculogastrointestinal Muscular Dystrophy; POLIP Syndrome; Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, and Intestinal Pseudo-Obstruction; Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction; Thymidine Phosphorylase Deficiency; Visceral Myopathy, Familial, With External Ophthalmoplegia

Networked: 29 relevant articles (1 outcomes, 2 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Optic Atrophy
2.	Diffuse Cerebral Sclerosis of Schilder (Alpers' Disease)
3.	Brain Diseases (Brain Disorder)
4.	Leukoencephalopathies
5.	Propionic Acidemia

Experts

1.	Hirano, Michio: 3 articles (10/2015 - 03/2003)
2.	Martí, Ramon: 3 articles (10/2015 - 03/2003)
3.	Seguy, D: 2 articles (12/2016 - 04/2005)
4.	Bakker, Jaap A: 2 articles (10/2015 - 12/2010)
5.	Nachbaur, David: 2 articles (10/2015 - 01/2013)
6.	Zoller, Heinz: 2 articles (10/2015 - 01/2013)
7.	Nishigaki, Yutaka: 2 articles (06/2003 - 03/2003)
8.	Dimakou, K: 1 article (03/2022)
9.	Dimitriou, E: 1 article (03/2022)
10.	Goorden, S M I: 1 article (03/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Visceral myopathy familial external ophthalmoplegia:

1.	Mitochondrial DNA (mtDNA)IBA 11/28/2010 - "With the discovery that thymidine phosphorylase deficiency causes destabilization of mitochondrial DNA and a severe multisystemic syndrome the importance of dNTP pool balance was extended to mitochondria. " 06/01/2003 - "Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency." 10/01/1998 - "Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome." 01/01/2019 - "Next generation sequencing in family with MNGIE syndrome associated to optic atrophy: Novel homozygous POLG mutation in the C-terminal sub-domain leading to mtDNA depletion." 04/01/2005 - "We tested 31 unrelated patients presenting either with a complete MNGIE syndrome (8 patients), a severe intestinal pseudo-obstruction (10 patients), and multiple deletions and/or depletion of mitochondrial DNA (13 patients). "
2.	ThymidineIBA 08/01/2009 - "Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a progressive neurodegenerative disorder associated with thymidine phosphorylase deficiency resulting in high levels of plasma thymidine and a characteristic clinical phenotype. " 02/15/2014 - "HPLC-UV analysis of thymidine and deoxyuridine in plasma of patients with thymidine phosphorylase deficiency." 02/01/2015 - "Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare disease caused by thymidine phosphorylase deficiency which leads to toxic accumulations of thymidine (dThd) and deoxyuridine (dUrd). " 03/01/2022 - "The diagnosis of MNGIE disease was established by the increased levels of thymidine and deoxyuridine in plasma and the complete deficiency of thymidine phosphorylase activity. " 12/01/2016 - "Direct evidence of MNGIE disease is based on specific testing of: (1) the thymidine phopshorylase enzyme activity in leukocytes is less than 10% of the control, (2) the increase of plasmatic thymidine (>3μmol/L) and the increase of plamatic deoxyuridine (>5μmol/L), (3) the evidence of mutations of the TYMP gene by molecular genetic testing. "
3.	EnzymesIBA 12/01/2010 - "Deficiency of the cytosolic enzyme thymidine phosphorylase (TP) causes a multisystem disorder called mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome. " 12/01/2016 - "Direct evidence of MNGIE disease is based on specific testing of: (1) the thymidine phopshorylase enzyme activity in leukocytes is less than 10% of the control, (2) the increase of plasmatic thymidine (>3μmol/L) and the increase of plamatic deoxyuridine (>5μmol/L), (3) the evidence of mutations of the TYMP gene by molecular genetic testing. " 10/07/2014 - "In this review, studies of the enzyme kinetic behavior of TK2 enzyme variants are used to explain the mechanism of mtDNA depletion caused by TK2 mutations, thymidine overload due to thymidine phosphorylase deficiency, and mitochondrial toxicity caused by antiviral thymidine analogues. "
4.	Mitochondrial Proteins (Mitochondrial Protein)IBA 01/01/2019 - "The present study reports the molecular investigation by next-generation re-sequencing of 281 nuclear genes, encoding mitochondrial proteins, of consanguineous family including two individuals with MNGIE syndrome associated to optic atrophy. "
5.	Antiviral Agents (Antivirals)IBA 10/07/2014 - "In this review, studies of the enzyme kinetic behavior of TK2 enzyme variants are used to explain the mechanism of mtDNA depletion caused by TK2 mutations, thymidine overload due to thymidine phosphorylase deficiency, and mitochondrial toxicity caused by antiviral thymidine analogues. "
6.	thymidine kinase 2IBA 10/07/2014 - "In this review, studies of the enzyme kinetic behavior of TK2 enzyme variants are used to explain the mechanism of mtDNA depletion caused by TK2 mutations, thymidine overload due to thymidine phosphorylase deficiency, and mitochondrial toxicity caused by antiviral thymidine analogues. "
7.	Thymidine PhosphorylaseIBA 12/01/2016 - "MNGIE disease is inherited in an autosomal recessive manner and related to mutations of the TYMP gene (ch22q13.32-qter), encoding the thymidine phosphorylase. " 01/01/2019 - "Among them, the mitochondrial neuro-gastrointestinal encephalo-myopathy (MNGIE) syndrome affects adolescents or young adults, and is mostly caused by TYMP mutations encoding a cytosolic thymidine phosphorylase (TP). " 08/01/2005 - "The etiology of POLIP/MNGIE syndrome appears therefore to be due to a mitochondrial cytopathy secondary to thymidine phosphorylase gene mutation(s). " 07/01/2019 - "Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome, caused by mutations in the thymidine phosphorylase gene, manifests as a multisystemic disorder characterized by severe gastrointestinal dysmotility, cachexia, ptosis and ophthalmoparesis, peripheral neuropathy, and leukoencephalopathy. " 12/01/2010 - "Deficiency of the cytosolic enzyme thymidine phosphorylase (TP) causes a multisystem disorder called mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome. "
8.	DeoxyuridineIBA 03/28/2003 - "Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency." 11/01/2002 - "Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE)." 02/15/2014 - "HPLC-UV analysis of thymidine and deoxyuridine in plasma of patients with thymidine phosphorylase deficiency." 02/01/2015 - "Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare disease caused by thymidine phosphorylase deficiency which leads to toxic accumulations of thymidine (dThd) and deoxyuridine (dUrd). " 03/01/2022 - "The diagnosis of MNGIE disease was established by the increased levels of thymidine and deoxyuridine in plasma and the complete deficiency of thymidine phosphorylase activity. "
9.	NucleosidesIBA 10/01/1974 - "Proceedings: Investigation of the nucleoside metabolism in Rhizobium lupini: obligatory thymidine phosphorylase deficiency."
10.	DNA (Deoxyribonucleic Acid)IBA 09/01/2011 - "MNGIE syndrome is a rare congenital disorder of mitochondrial DNA (mt-DNA). "

Therapies and Procedures

1.	Stem Cell Transplantation 04/01/2013 - "Finally, stem cell transplantation in MNGIE disease shows promising results." 06/10/2019 - "In less advanced disease, stem cell transplantation can correct thymidine phosphorylase deficiency." 10/01/2015 - "Haematopoietic stem cell transplantation has been proposed as treatment for mitochondrial neurogastrointestinal encephalomyopathy, a rare fatal autosomal recessive disease due to TYMP mutations that result in thymidine phosphorylase deficiency. "
2.	Cochlear Implantation 09/01/2011 - "Cochlear implantation can be recommended to patients with MNGIE syndrome and satisfactory results can be achieved." 09/01/2011 - "Abstract A 28-year-old woman with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE syndrome) undergoing evaluation for multichannel cochlear implantation is described. " 09/01/2011 - "Successful cochlear implantation in a patient with MNGIE syndrome."
3.	Hematopoietic Stem Cell Transplantation 01/01/2023 - "Hematopoietic stem cell transplantation with reduced toxicity conditioning regimen in mitochondrial neurogastrointestinal encephalopathy syndrome."
4.	Liver Transplantation 06/29/2019 - "Anesthetic Considerations for Liver Transplantation in a Patient with Mitochondrial Neurogastrointestinal Encephalopathy Syndrome."
5.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 01/01/2013 - "MNGIE Syndrome: Liver Cirrhosis Should Be Ruled Out Prior to Bone Marrow Transplantation."