Síndrome caracterizada pela associação de dismotilidade gastrointestinal, neuropatia periférica, oftalmoplegia externa crônica progressiva e leucoencefalopatia.
Introdução
O que você precisa saber de cara
Síndrome caracterizada pela associação de dismotilidade gastrointestinal, neuropatia periférica, oftalmoplegia externa crônica progressiva e leucoencefalopatia.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 39 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 113 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
4 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
Isoform 3 functions as a heterodimer with DNA-repair protein XRCC1 in the nucleus and can correct defective DNA strand-break repair and sister chromatid exchange following treatment with ionizing radiation and alkylating agents. Isoform 1 is targeted to mitochondria, where it functions as a DNA ligase in mitochondrial base-excision DNA repair (PubMed:10207110, PubMed:24674627)
MitochondrionNucleus
Mitochondrial DNA depletion syndrome 20, MNGIE type
An autosomal recessive mitochondrial disorder characterized by severe gut dysmotility, muscle weakness and atrophy, neurological abnormalities including epilepsy, migraine, stroke-like episodes, learning difficulties or cognitive decline, and neurogenic bladder. Brain imaging usually shows diffuse leukoencephalopathy and may show cerebellar atrophy. Disease onset can range from infancy to the teenage years.
Catalytic subunit of DNA polymerase gamma solely responsible for replication of mitochondrial DNA (mtDNA). Replicates both heavy and light strands of the circular mtDNA genome using a single-stranded DNA template, RNA primers and the four deoxyribonucleoside triphosphates as substrates (PubMed:11477093, PubMed:11897778, PubMed:15917273, PubMed:19837034, PubMed:9558343). Has 5' -> 3' polymerase activity. Functionally interacts with TWNK and SSBP1 at the replication fork to form a highly processiv
MitochondrionMitochondrion matrix, mitochondrion nucleoid
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1
A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism.
Plays a pivotal role in cell survival by repairing damaged DNA in a p53/TP53-dependent manner. Supplies deoxyribonucleotides for DNA repair in cells arrested at G1 or G2. Contains an iron-tyrosyl free radical center required for catalysis. Forms an active ribonucleotide reductase (RNR) complex with RRM1 which is expressed both in resting and proliferating cells in response to DNA damage
CytoplasmNucleus
Mitochondrial DNA depletion syndrome 8A
A disorder due to mitochondrial dysfunction characterized by various combinations of neonatal hypotonia, neurological deterioration, respiratory distress, lactic acidosis, and renal tubulopathy.
May have a role in maintaining the integrity of the blood vessels. Has growth promoting activity on endothelial cells, angiogenic activity in vivo and chemotactic activity on endothelial cells in vitro Catalyzes the reversible phosphorolysis of thymidine. The produced molecules are then utilized as carbon and energy sources or in the rescue of pyrimidine bases for nucleotide synthesis
Mitochondrial DNA depletion syndrome 1, MNGIE type
A multisystem disease associated with mitochondrial dysfunction. It is clinically characterized by onset between the second and fifth decades of life, ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility (often pseudoobstruction), diffuse leukoencephalopathy, cachexia, peripheral neuropathy, and myopathy.
Variantes genéticas (ClinVar)
1,070 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 113 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
8 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Encefalomiopatia neurogastrointestinal mitocondrial
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
5 ensaios clínicos encontrados.
Publicações mais relevantes
Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features.
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an extremely rare autosomal recessive disease caused by variants in the thymidine phosphorylase gene (TYMP), primarily characterized by severe gastrointestinal and neurological symptoms. The complete phenotype of MNGIE has not been linked to any gene other than TYMP. We describe two identical twins who exhibited delayed psychomotor development, infantile bilateral cataract, congenital demyelinating polyneuropathy, and severe progressive gastrointestinal dysmotility with recurrent pseudo-obstruction episodes, along with diffuse supratentorial leukoencephalopathy that mainly overlaps with classic TYMP-related MNGIE. During the course of the disease, one patient developed Wernicke encephalopathy, triggered by chronic malnutrition related to recurrent gastrointestinal pseudo-obstruction. This patient later suffered from a catastrophic stroke-like episode, resulting in massive cerebral edema and brain death at the age of 38. Next-generation sequencing (NGS) using a custom-targeted mitochondrial gene panel identified two compound heterozygous variants in the POLG gene: the paternal variants p.Thr251Ile and p.Pro587Leu, occurring in cis, and the novel maternal variant p.Arg853Gly. Quantification of mtDNA by real-time PCR on skeletal muscle DNA detected significant depletion, but no multiple deletions were detected with mtDNA analysis by long-range PCR and Nanopore sequencing. These cases showed a very distinctive POLG phenotype, with some MNGIE-like features, expanding the clinical and genetic spectrum of the POLG-related diseases. Additionally, they highlighted the importance of monitoring for thiamine deficiency in mitochondrial patients with severe gastrointestinal dysmotility who experience sudden clinical deterioration.
Role of mitochondria in neuronal function and survival in the enteric and central nervous systems.
Mitochondria are indispensable organelles that not only generate cellular energy through oxidative phosphorylation but also regulate calcium homeostasis, redox balance, and apoptotic signaling. Given the high metabolic demands of neurons, mitochondrial function and resilience mechanisms are essential for neuronal development, maturation, and survival; when these systems fail, pathological outcomes can arise. This review highlights the critical role of mitochondria in maintaining neuronal function, with discussion related to both the central (CNS) and enteric (ENS) nervous systems. We present how mitochondrial dysfunction, through impaired bioenergetics, oxidative stress, defective quality control, and altered dynamics, can drive neuronal cell loss. Furthermore, we highlight the link between mitochondrial defects and nervous system pathological outcomes in both primary mitochondrial disorders, such as mitochondrial neurogastrointestinal encephalomyopathy, and secondary mitochondrial disorders, such as Alzheimer, Parkinson, and Huntington disease, as well as amyotrophic lateral sclerosis. By integrating evidence from the CNS and ENS, this review highlights the central role of mitochondria in supporting and preserving neuronal health, as well as the potential of mitochondria as therapeutic targets in neurodegenerative disease. [Image: see text]
Mitochondrial DNA Maintenance Defects: Clinical, Imaging, and Genetic Spectrum of Four Patients from a Single Tertiary Care Centre.
Mitochondrial DNA maintenance defects (MDMD) are rare genetic disorders that typically present in infancy but can manifest later with multi-organ involvement. We describe four MDMD cases (age 19-25) with distinct clinical and genetic profiles and delayed diagnosis. Two patients with mitochondrial neurogastrointestinal encephalomyopathy (homozygous TYMP variants: c.454G>T, c.866A>C) exhibited cachexia, ptosis, neuropathy, and confluent white matter hyperintensities leukodystrophy. Two others with MPV17 (c.293C>T) presented with neuromyopathy and hepatosplenomegaly; one showed novel concentric ring lesions on magnetic resonance imaging (MRI). Despite severe white matter changes/leukodystrophy, cognition was preserved. Diagnoses were delayed due to atypical gastrointestinal or neuromuscular symptoms. This series highlights the diagnostic challenge of MDMD and underscores that it should be considered in adolescents or young adults with unexplained neuropathy, white matter hyperintensities/leukodystrophy, or cachexia, even without classic hepatic or encephalopathic features. Genetic testing is essential for diagnosis, as phenotypic variability often obscures underlying MDMD. Our findings underscore the need for increased awareness of this delayed-diagnosis presentation to enable timely intervention.
COVID-19 Outcomes and Risk Factors for Hospitalization in Adult Patients With Primary Immunodeficiency.
The impact of coronavirus disease 2019 (COVID-19) on patients with primary immunodeficiency (PID) remains insufficiently characterized. This study aimed to describe the clinical manifestations, disease course, and outcomes of COVID-19 in patients with PID. Adult patients with PID who had COVID-19 infection between March 2020 and August 2022 were screened. Demographic and clinical data were retrospectively collected from institutional databases, and additional information was obtained through a patient questionnaire. A total of 36 patients (19 males, 17 females; median age: 36.5 years) with various PID subtypes were included: 24 with common variable immunodeficiency (CVID), 3 with cytotoxic T-lymphocyte-associated protein-4 haploinsufficiency, 3 with X-linked agammaglobulinemia (XLA), 2 with hypogammaglobulinemia, 1 with lipopolysaccharide-responsive and beige-like anchor protein deficiency, 1 with DiGeorge syndrome, 1 with mitochondrial neurogastrointestinal encephalomyopathy syndrome, and 1 with CVID-like capillary malformation-arteriovenous malformation syndrome 2. Overall, 63.9% (n = 23) were managed as outpatients, while 36.1% (n = 13) required hospitalization. Admission to the intensive care unit was required in 19.4% (n = 7) of the cases. The overall case fatality rate was 8.3% (n = 3), which is higher than the rate observed in the general population. Although the majority experienced a mild clinical course, patients with XLA exhibited prolonged symptoms and persistent seropositivity. Risk factors associated with hospitalization included lymphopenia, elevated C-reactive protein and ferritin levels, dyspnea, COVID-19 Reporting and Data System score ≥ 4 on imaging, need for supplemental oxygen, prolonged symptoms, and extended polymerase chain reaction positivity. A subset of adult patients with PID may be at increased risk for severe COVID-19.
Expansion of the Phenotypic Spectrum of MNGIE: Lipodystrophy and Metabolic Alterations Associated with a p.Arg393_Val400dup TYMP Variant.
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder caused by mutations in the TYMP gene, typically characterized by severe and progressive gastrointestinal and neurological manifestations. Recent reports have identified a subset of patients presenting with generalized lipodystrophy and metabolic abnormalities, suggesting that adipose tissue involvement may be an underrecognized feature of the disease. Herein, we report the case of a 16-year-old female carrying a previously described homozygous TYMP variant (c.1178_1201dup; p.Arg393_Val400dup), who presented during adolescence with generalized lipodystrophy, insulin resistance, hypertriglyceridemia, hepatic steatosis, and other metabolic complications. At diagnosis, she exhibited no overt neurological or gastrointestinal symptoms; however, electroneurography revealed subclinical peripheral neuropathy. This case broadens the phenotypic spectrum of TYMP-related disease by documenting a lipodystrophic and metabolic presentation associated with the p.Arg393_Val400dup variant. While TYMP mutations have been linked to lipodystrophy in rare cases, this specific variant had previously been reported only in the context of classical MNGIE, with no documented evidence of adipose tissue or metabolic derangement. Our findings highlight the importance of considering TYMP involvement in the differential diagnosis of atypical lipodystrophy syndromes, particularly when features suggest underlying mitochondrial dysfunction.
Publicações recentes
DCTPP1 orchestrates dCTP pool dynamics and mtDNA stability in quiescent cells.
Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features.
Role of mitochondria in neuronal function and survival in the enteric and central nervous systems.
🥈 ObservacionalCOVID-19 Outcomes and Risk Factors for Hospitalization in Adult Patients With Primary Immunodeficiency.
Mitochondrial DNA Maintenance Defects: Clinical, Imaging, and Genetic Spectrum of Four Patients from a Single Tertiary Care Centre.
📚 EuropePMC146 artigos no totalmostrando 107
Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features.
European journal of neurologyRole of mitochondria in neuronal function and survival in the enteric and central nervous systems.
Cellular and molecular life sciences : CMLSCOVID-19 Outcomes and Risk Factors for Hospitalization in Adult Patients With Primary Immunodeficiency.
Allergy, asthma & immunology researchMitochondrial DNA Maintenance Defects: Clinical, Imaging, and Genetic Spectrum of Four Patients from a Single Tertiary Care Centre.
Annals of Indian Academy of NeurologySequential development of three syndromes in a patient with m.3243A>G mutation: a case report.
Frontiers of medicineExpansion of the Phenotypic Spectrum of MNGIE: Lipodystrophy and Metabolic Alterations Associated with a p.Arg393_Val400dup TYMP Variant.
International journal of molecular sciencesUntargeted Plasma Metabolomics Extends the Biomarker Profile of Mitochondrial Neurogastrointestinal Encephalomyopathy.
International journal of molecular sciencesMitochondrial Neurogastrointestinal Encephalomyopathy Presenting with Peripheral Neuropathy and Hearing Loss.
WMJ : official publication of the State Medical Society of WisconsinMitochondrial neurogastrointestinal encephalomyopathy in china: a novel TYMP variant and comprehensive clinical-genetic insights.
Orphanet journal of rare diseasesSuccessful AAV8 gene therapy on hepatic ex situ machine perfusion for mitochondrial neurogastrointestinal encephalomyopathy.
Journal of hepatologyClinical and Intestinal Ultrasound Findings in Mitochondrial Neurogastrointestinal Encephalomyopathy:Report of One Case.
Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae SinicaeThymidine phosphorylase in nucleotide metabolism: physiological functions and its implications in tumorigenesis and anti-cancer therapy.
Frontiers in immunologyMitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) Phenotype Associated With Unique Compound Heterozygous POLG Variants: Case Presentation and Review of the Literature.
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology SocietyBrain magnetic resonance imaging findings in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A case-based review.
Radiology case reportsRare digestive disease: Mitochondrial neurogastrointestinal encephalomyopathy, review of the literature.
Journal of digestive diseasesPrimary mitochondrial diseases.
Handbook of clinical neurologyLysosomal dysfunction and overload of nucleosides in thymidine phosphorylase deficiency of MNGIE.
Journal of translational medicineMeningoencephalitis in a novel mutation in MNGIE (mitochondrial neurogastrointestinal encephalomyopathy) ending a familial diagnostic odyssey: A case series report.
Journal of central nervous system diseaseSuccessful Sequential Liver and Isolated Intestine Transplantation for Mitochondrial Neurogastrointestinal Encephalopathy Syndrome: A Case Report.
Annals of transplantationMultivisceral transplantation for the treatment of mitochondrial neurogastrointestinal encephalomyopathy.
Clinical transplantationA rare cause of anejaculation: mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome: case report.
International journal of impotence researchDistinctive metabolic remodeling in TYMP deficiency beyond mitochondrial dysfunction.
Journal of molecular medicine (Berlin, Germany)Ocular manifestations of mitochondrial neurogastrointestinal encephalomyopathy: A case report and literature review.
American journal of medical genetics. Part ADistinctive gastrointestinal motor dysfunction in patients with MNGIE.
Neurogastroenterology and motilityHematopoietic stem cell transplantation with reduced toxicity conditioning regimen in mitochondrial neurogastrointestinal encephalopathy syndrome.
Pediatric blood & cancerProgressive external ophthalmoplegia.
Handbook of clinical neurologyMitochondrial Neurogastrointestinal Encephalomyopathy Causing Fanconi Syndrome.
Kidney international reportsCase report: A patient with mitochondrial neurogastrointestinal encephalomyopathy and chronic intestinal failure.
Frontiers in nutrition[Masks hiding mitochondrial neurogastrointestinal encephalomyopathy. Case report].
Terapevticheskii arkhivMitochondrial neurogastrointestinal encephalomyopathy in a Pakistani female: a case report.
Journal of medical case reportsClinical spectrum of early onset "Mediterranean" (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy.
JIMD reportsA Rare Case of Mitochondrial Neurogastrointestinal Encephalomyopathy.
ACG case reports journalA novel thymidine phosphorylase mutation in a family with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): Molecular docking, dynamic simulation and computational investigations.
International journal of developmental neuroscience : the official journal of the International Society for Developmental NeuroscienceA Case of Mitochondrial Neurogastrointestinal Encephalomyopathy with Metabolic Complications During Refeeding.
The American journal of case reportsAn Unfortunate Cause of Chronic Nausea and Vomiting: Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE).
Case reports in gastrointestinal medicineLoss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes.
BMC medicineEngineering of the Recombinant Expression and PEGylation Efficiency of the Therapeutic Enzyme Human Thymidine Phosphorylase.
Frontiers in bioengineering and biotechnologyMitochondrial neurogastrointestinal encephalomyopathy: Clinical and biochemical impact of allogeneic stem cell transplantation in a Greek patient with one novel TYMP mutation.
Molecular genetics and metabolism reportsPreclinical Assessment of a Gene-Editing Approach in a Mouse Model of Mitochondrial Neurogastrointestinal Encephalomyopathy.
Human gene therapyCirculating miRNAs as Biomarkers for Mitochondrial Neuro-Gastrointestinal Encephalomyopathy.
International journal of molecular sciencesBiallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
Brain : a journal of neurologyNovel Mutations of the TYMP Gene in Mitochondrial Neurogastrointestinal Encephalomyopathy: Case Series and Literature Review.
Journal of molecular neuroscience : MNRegional anesthesia in two consecutive surgeries in a patient with mitochondrial neurogastrointestinal encephalomyopathy: a case report.
Brazilian journal of anesthesiology (Elsevier)Evidence of enteric angiopathy and neuromuscular hypoxia in patients with mitochondrial neurogastrointestinal encephalomyopathy.
American journal of physiology. Gastrointestinal and liver physiologyHematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalopathy: A single-center experience underscoring the multiple factors involved in the prognosis.
Pediatric blood & cancerEfficacy of adeno-associated virus gene therapy in a MNGIE murine model enhanced by chronic exposure to nucleosides.
EBioMedicinePregnancy in MNGIE: a clinical and metabolic honeymoon.
Annals of clinical and translational neurologyMitochondrial neurogastrointestinal encephalomyopathy: approaches to diagnosis and treatment.
Journal of translational genetics and genomicsMitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.
Journal of inherited metabolic diseaseTYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis.
Frontiers in geneticsLiver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical long-term follow-up and pathogenic implications.
Journal of neurologyClinical and molecular characterization of a patient with mitochondrial Neurogastrointestinal Encephalomyopathy.
BMC gastroenterologyExpression and Retention of Thymidine Phosphorylase in Cultured Reticulocytes as a Novel Treatment for MNGIE.
Molecular therapy. Methods & clinical developmentClinicopathology and Diagnosis Delay in a 40-Year-Old with Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE).
Case reports in gastroenterologyOngoing Developments and Clinical Progress in Drug-Loaded Red Blood Cell Technologies.
BioDrugs : clinical immunotherapeutics, biopharmaceuticals and gene therapyQuantification of Plasma and Urine Thymidine and 2'-Deoxyuridine by LC-MS/MS for the Pharmacodynamic Evaluation of Erythrocyte Encapsulated Thymidine Phosphorylase in Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy.
Journal of clinical medicineSuccessful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Molecular genetics and metabolismMitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutation in Thymidine Phosphorylase Gene in a Patient from Cape Verde Islands.
Case reports in neurological medicineMitochondrial disorders and drugs: what every physician should know.
Drugs in contextLeukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalomyopathy-Like Syndrome with Polymerase-Gamma Mutations.
Annals of Indian Academy of NeurologyErythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial.
Journal of clinical medicineSafety and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase in Mitochondrial Neurogastrointestinal Encephalomyopathy.
Journal of clinical medicineAlpha-1-Antitrypsin Promoter Improves the Efficacy of an Adeno-Associated Virus Vector for the Treatment of Mitochondrial Neurogastrointestinal Encephalomyopathy.
Human gene therapyGenetic neuromuscular disorders: living the era of a therapeutic revolution. Part 1: peripheral neuropathies.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyMitochondrial Neurogastrointestinal Encephalomyopathy Disease in Three Siblings from Pakistan with a Novel Mutation.
Journal of pediatric geneticsGastrointestinal Dysmotility in MNGIE: from thymidine phosphorylase enzyme deficiency to altered interstitial cells of Cajal.
Orphanet journal of rare diseases[Mitochondrial diseases].
Der NervenarztMitochondrial Neurogastrointestinal Encephalomyopathy: Into the Fourth Decade, What We Have Learned So Far.
Frontiers in geneticsThe development of an in vitro cerebral organoid model for investigating the pathomolecular mechanisms associated with the central nervous system involvement in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE).
Nucleosides, nucleotides & nucleic acidsDiscovery profiling and bioinformatics analysis of serum microRNA in Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE).
Nucleosides, nucleotides & nucleic acidsPeripheral neuropathy and gastroenterologic disorders: an overview on an underrecognized association.
Acta bio-medica : Atenei ParmensisA mitochondrial neurogastrointestinal encephalomyopathy with intestinal pseudo-obstruction resulted from a novel splice site mutation.
Clinical dysmorphologyLeukoencephalopathy with a case of heterozygous POLG mutation mimicking mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaMitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE-MTDPS1).
Journal of clinical medicineTransplantation, gene therapy and intestinal pathology in MNGIE patients and mice.
BMC gastroenterologyValidation of an Immunoassay for Anti-thymidine Phosphorylase Antibodies in Patients with MNGIE Treated with Enzyme Replacement Therapy.
Molecular therapy. Methods & clinical developmentMitochondrial neurogastrointestinal encephalomyopathy imitating Crohn's disease: a rare cause of malnutrition.
Journal of gastrointestinal and liver diseases : JGLDMitochondrial Neurogastrointestinal Encephalomyopathy: A Nonrenal Indication for Peritoneal Dialysis.
Indian journal of nephrologyPreclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIE.
Molecular therapy. Methods & clinical developmentLong-Term Sustained Effect of Liver-Targeted Adeno-Associated Virus Gene Therapy for Mitochondrial Neurogastrointestinal Encephalomyopathy.
Human gene therapyMitochondrial Neurogastrointestinal Encephalomyopathy in the Differential Diagnosis of Eating Disorders.
The Journal of adolescent health : official publication of the Society for Adolescent MedicineMitochondrial Neurogastrointestinal Encephalomyopathy Syndrome with an Unusual Pattern of Inheritance.
Annals of Indian Academy of NeurologyTransient clinical improvement of a mitochondrial neurogastrointestinal encephalomyopathy-like syndrome after allogeneic haematopoietic stem cell transplantation.
BMJ case reportsHemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function.
Orphanet journal of rare diseasesMigraine in mitochondrial disorders: Prevalence and characteristics.
Cephalalgia : an international journal of headacheMitochondrial neurogastrointestinal encephalomyopathy (MNGIE) mimicking refractory celiac disease.
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the LiverMitochondrial Neurogastrointestinal Encephalomyopathy Syndrome Treated with Stem Cell Transplant: A Case Series and Literature Review.
Experimental and clinical transplantation : official journal of the Middle East Society for Organ TransplantationLiver transplant reverses biochemical imbalance in mitochondrial neurogastrointestinal encephalomyopathy.
MitochondrionMitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options.
Frontiers in cellular neuroscienceMitochondrial Neurogastrointestinal Encephalomyopathy Presenting as Anorexia Nervosa.
The Journal of adolescent health : official publication of the Society for Adolescent MedicineA novel thymidine phosphorylase mutation in a Chinese MNGIE patient.
Acta neurologica BelgicaLiver transplantation for mitochondrial neurogastrointestinal encephalomyopathy.
Annals of neurologyRight atrial thrombus associated with subclavian catheter developed due to total parenteral nutrition application.
Kardiochirurgia i torakochirurgia polska = Polish journal of cardio-thoracic surgeryHuman mitochondrial DNA replication machinery and disease.
Current opinion in genetics & developmentPearls & Oy-sters: Mitochondrial neurogastrointestinal encephalomyopathy: Diagnosis and response to peritoneal dialysis.
NeurologyITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyLong-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy.
Human gene therapyPeripheral neuropathy is a common manifestation of mitochondrial diseases: a single-centre experience.
European journal of neurologyA celiac case mimicking mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
The Turkish journal of pediatricsMicroRNA expression profile of a Malaysian Bajau family with familial mitochondrial neurogastrointestinal encephalomyopathy.
Genetics and molecular research : GMRFluoroquinolone-induced serious, persistent, multisymptom adverse effects.
BMJ case reportsAllogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.
Brain : a journal of neurologyMitochondrial diseases caused by toxic compound accumulation: from etiopathology to therapeutic approaches.
EMBO molecular medicineAnesthetic Management of a Child with Mitochondrial Neurogastrointestinal Encephalopathy.
Case reports in anesthesiologyEye movement changes in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Journal of the neurological sciencesSpontaneous abdominal esophageal perforation in a patient with mitochondrial neurogastrointestinal encephalomyopathy.
Acta clinica BelgicaMitochondrial Neurogastrointestinal Encephalomyopathy Treated with Stem Cell Transplantation: A Case Report and Review of Literature.
Hematology/oncology and stem cell therapyAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features.
- Role of mitochondria in neuronal function and survival in the enteric and central nervous systems.
- Mitochondrial DNA Maintenance Defects: Clinical, Imaging, and Genetic Spectrum of Four Patients from a Single Tertiary Care Centre.
- COVID-19 Outcomes and Risk Factors for Hospitalization in Adult Patients With Primary Immunodeficiency.
- Expansion of the Phenotypic Spectrum of MNGIE: Lipodystrophy and Metabolic Alterations Associated with a p.Arg393_Val400dup TYMP Variant.
- DCTPP1 orchestrates dCTP pool dynamics and mtDNA stability in quiescent cells.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:298(Orphanet)
- MONDO:0017575(MONDO)
- GARD:9920(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q56014003(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
