Clinical spectrum of early onset “Mediterranean” (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathy

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dc.authorscopusid26428601400
dc.authorscopusid57202984757
dc.authorscopusid23059712400
dc.authorscopusid57220119294
dc.authorscopusid57193232217
dc.authorscopusid24824386400
dc.authorscopusid8929131500
dc.contributor.authorKalkan Uçar S.
dc.contributor.authorYazıcı H.
dc.contributor.authorCanda E.
dc.contributor.authorEr E.
dc.contributor.authorBulut F.D.
dc.contributor.authorEraslan C.
dc.contributor.authorOnay H.
dc.date.accessioned2023-01-12T20:22:21Z
dc.date.available2023-01-12T20:22:21Z
dc.date.issued2022
dc.departmentN/A/Departmenten_US
dc.description.abstractMitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive mitochondrial disorder characterized by cumulative and progressive gastrointestinal and neurological findings. This retrospective observational study, aimed to explore the time of presentation, diagnosis and clinical follow-up of 13 patients with a confirmed MNGIE disease of Mediterranean origin. The mean age of symptom onset was 7 years (6 months?21 years) and the average diagnosis age was 15.4 years ±8.4. Four of 13 patients (30%) died before 30 years at the mean age of 19.7 years ±6.8. Cachexia and gastrointestinal symptoms were observed in all patients (100%). The mean body mass index standard deviation score at diagnosis was 4.8 ± 2.8. At least three subocclusive episodes were presented in patients who died in last year of their life. The main neurological symptom found in most patients was peripheral neuropathy (92%). Ten patients (77%) had leukoencephalopathy and the remaining three patients without were under 10 years of age. The new homozygous “Mediterranean” TYMP mutation, p.P131L (c.392 C > T) was associated with an early presentation and poor prognosis in nine patients (69%) from five separates families. Based on the observations from this Mediterranean MNGIE cohort, we propose that the unexplained abdominal pain combined with cachexia is an indicator of MNGIE. High-platelet counts and nerve conduction studies may be supportive laboratory findings and the frequent subocclusive episodes could be a negative prognostic factor for mortality. Finally, the homozygous p.P131L (c.392 C > T) mutation could be associated with rapid progressive disease with poor prognosis. © 2022 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.en_US
dc.description.sponsorshipThe authors thank Ergül Bozacı, Merve Yoldaş Çelik, Fehime Erdem, Ayşe Yüksel Yanbolu, Melis Köse, Mehtap Kağınıcı, Samim Özen, Sanem Yılmaz, Miray Karakoyun, Zülal Ülger Tutar, Ertürk Levent, Savaş Kansoy, Serap Aksoylular, Gülcihan Özek for their support during clinical follow up of the patients; Yasemin Atik Altınok, Yelda Mansuroğlu for their help about nutrition support; Sara Habif, Güneş Ak for laboratory help; Gonca Koç, Süreyya Özbek for ultrasonography, Elif Demirkılıç, Serhat Nalçacı for ophthalmological evaluation, Kerem Öztürk for hearing evaluation and follow-up; Nursers, Patients' family and patients.en_US
dc.identifier.doi10.1002/jmd2.12315
dc.identifier.endpage493en_US
dc.identifier.issn21928304
dc.identifier.issn2192-8304en_US
dc.identifier.issue5en_US
dc.identifier.scopus2-s2.0-85137987381en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage484en_US
dc.identifier.urihttps://doi.org/10.1002/jmd2.12315
dc.identifier.urihttps://hdl.handle.net/11454/79420
dc.identifier.volume63en_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherJohn Wiley and Sons Incen_US
dc.relation.ispartofJIMD Reportsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectclinical overviewen_US
dc.subjectmitochondrial neurogastrointestinal encephalomyopathyen_US
dc.subjectthymidine phosphorylaseen_US
dc.subjectabdominal painen_US
dc.subjectadolescenten_US
dc.subjectadulten_US
dc.subjectanorexiaen_US
dc.subjectArticleen_US
dc.subjectbody massen_US
dc.subjectcachexiaen_US
dc.subjectchilden_US
dc.subjectclinical articleen_US
dc.subjectdisease exacerbationen_US
dc.subjectechocardiographyen_US
dc.subjectfemaleen_US
dc.subjectfollow upen_US
dc.subjectgastrointestinal symptomen_US
dc.subjectgene mutationen_US
dc.subjectgene sequenceen_US
dc.subjecthearing impairmenten_US
dc.subjecthepatomegalyen_US
dc.subjecthumanen_US
dc.subjectleukoencephalopathyen_US
dc.subjectlimb weaknessen_US
dc.subjectmaleen_US
dc.subjectmitral valve prolapseen_US
dc.subjectMNGIE syndromeen_US
dc.subjectnauseaen_US
dc.subjectnuclear magnetic resonance imagingen_US
dc.subjectobservational studyen_US
dc.subjectperipheral neuropathyen_US
dc.subjectplatelet counten_US
dc.subjectpregnancyen_US
dc.subjectpreschool childen_US
dc.subjectretrospective studyen_US
dc.subjectschool childen_US
dc.subjectthrombocytosisen_US
dc.subjecttricuspid valve regurgitationen_US
dc.subjectyoung adulten_US
dc.titleClinical spectrum of early onset “Mediterranean” (homozygous p.P131L mutation) mitochondrial neurogastrointestinal encephalomyopathyen_US
dc.typeArticleen_US

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