Diagnosing mitochondrial, neurogastrointestinal leukoencephalopathy requires mutations in TYMP1, POLG1, LIG1, or RRM2B

go back to reference Khan ZR, Karam A, Ul Haq MA, Aman A, Karam AS. Mitochondrial neurogastrointestinal encephalomyopathy in a Pakistani female: a case report. J Med Case Rep. 2022;16(1):363. https://doi.org/10.1186/s13256-022-03582-6.CrossRefPubMedPubMedCentral Khan ZR, Karam A, Ul Haq MA, Aman A, Karam AS. Mitochondrial neurogastrointestinal encephalomyopathy in a Pakistani female: a case report. J Med Case Rep. 2022;16(1):363. https://​doi.​org/​10.​1186/​s13256-022-03582-6.CrossRefPubMedPubMedCentral

go back to reference Tang S, Dimberg EL, Milone M, Wong LJ. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations. J Neurol. 2012;259(5):862–8. https://doi.org/10.1007/s00415-011-6268-6.CrossRefPubMed Tang S, Dimberg EL, Milone M, Wong LJ. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations. J Neurol. 2012;259(5):862–8. https://​doi.​org/​10.​1007/​s00415-011-6268-6.CrossRefPubMed

go back to reference Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR, Severino M, Striano P, Fiorillo C, Goto T, Uchino S, Oyazato Y, Nakamura H, Mishra SK, Yeh YS, Kato T, Nozu K, Tanboon J, Morioka I, Nishino I, Toda T, Goto YI, Ohtake A, Kosaki K, Yamaguchi Y, Nonaka I, Iijima K, Mimaki M, Kurahashi H, Raams A, MacInnes A, Alders M, Engelen M, Linthorst G, de Koning T, den Dunnen W, Dijkstra G, van Spaendonck K, van Gent DC, Aronica EM, Picco P, Carelli V, Seri M, Katsanis N, Duijkers FAM, Taniguchi-Ikeda M, De Giorgio R. Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy. Brain. 2021;144(5):1451–66. https://doi.org/10.1093/brain/awab056.CrossRefPubMed Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR, Severino M, Striano P, Fiorillo C, Goto T, Uchino S, Oyazato Y, Nakamura H, Mishra SK, Yeh YS, Kato T, Nozu K, Tanboon J, Morioka I, Nishino I, Toda T, Goto YI, Ohtake A, Kosaki K, Yamaguchi Y, Nonaka I, Iijima K, Mimaki M, Kurahashi H, Raams A, MacInnes A, Alders M, Engelen M, Linthorst G, de Koning T, den Dunnen W, Dijkstra G, van Spaendonck K, van Gent DC, Aronica EM, Picco P, Carelli V, Seri M, Katsanis N, Duijkers FAM, Taniguchi-Ikeda M, De Giorgio R. Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy. Brain. 2021;144(5):1451–66. https://​doi.​org/​10.​1093/​brain/​awab056.CrossRefPubMed

go back to reference Shaibani A, Shchelochkov OA, Zhang S, Katsonis P, Lichtarge O, Wong LJ, Shinawi M. Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B. Arch Neurol. 2009;66(8):1028–32. https://doi.org/10.1001/archneurol.2009.139.CrossRefPubMedPubMedCentral Shaibani A, Shchelochkov OA, Zhang S, Katsonis P, Lichtarge O, Wong LJ, Shinawi M. Mitochondrial neurogastrointestinal encephalopathy due to mutations in RRM2B. Arch Neurol. 2009;66(8):1028–32. https://​doi.​org/​10.​1001/​archneurol.​2009.​139.CrossRefPubMedPubMedCentral

go back to reference Liu N, Sun Q. Quantitation of pyrimidine in urine by ultra-performance liquid chromatography-tandem mass spectrometry. Methods Mol Biol. 2022;2546:431–7. https://doi.org/10.1007/978-1-0716-2565-1_38.CrossRefPubMed Liu N, Sun Q. Quantitation of pyrimidine in urine by ultra-performance liquid chromatography-tandem mass spectrometry. Methods Mol Biol. 2022;2546:431–7. https://​doi.​org/​10.​1007/​978-1-0716-2565-1_​38.CrossRefPubMed