Poor outcome in a mitochondrial neurogastrointestinal encephalomyopathy patient with a novel TYMP mutation: The need for early diagnosis

Case Reports in Neurology

Volumn 4, Issue 3, 2012, Pages 248-253

  Scarpelli, Mauro ^a,b   Russignan, Anna ^a   Zombor, Melinda ^c   Bereczki, Csaba ^c   Zappini, Francesca ^a   Buono, Romina ^a   Bax, Bridget E ^d   Padovani, Alessandro ^b   Tonin, Paola ^a   Filosto, Massimiliano ^b  

^a UNIVERSITY OF VERONA   (Italy)

^b SPEDALI CIVILI   (Italy)

^c UNIVERSITY OF SZEGED   (Hungary)

^d ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

Mitochondrial neurogastrointestinal encephalomyopathy; Thymidine phosphorylase; TYMP

Indexed keywords

THYMIDINE PHOSPHORYLASE;

ADULT; ARTICLE; CACHEXIA; CASE REPORT; EARLY DIAGNOSIS; EXON; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; MALE; MALNUTRITION; MNGIE SYNDROME; MULTIPLE ORGAN FAILURE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

EID: 84873101754     PISSN: None     EISSN: 1662680X     Source Type: Journal    
DOI: 10.1159/000346260     Document Type: Article

References (15)

1. Garone C, Tadesse S, Hirano M: Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. Brain 2011;134:3326-3332.
2. Nishino I, Spinazzola A, Papadimitriou A, Hammans S, Steiner I, Hahn CD, Connolly AM, Verloes A, Guimarães J, Maillard I, Hamano H, Donati MA, Semrad CE, Russell JA, Andreu AL, Hadjigeorgiou GM, Vu TH, Tadesse S, Nygaard TG, Nonaka I, Hirano I, Bonilla E, Rowland LP, DiMauro S, Hirano M: Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations. Ann Neurol 2000;47:792-800.
3. Martín MA, Blázquez A, Martí R, Bautista J, Lara MC, Cabello A, Campos Y, Belda O, Andreu AL, Arenas J: Lack of gastrointestinal symptoms in a 60-year-old patient with MNGIE. Neurology 2004;63:1536-1537.
4. Massa R, Tessa A, Margollicci M, Micheli V, Romigi A, Tozzi G, Terracciano C, Piemonte F, Bernardi G, Santorelli FM: Late-onset MNGIE without peripheral neuropathy due to incomplete loss of thymidine phosphorylase activity. Neuromuscul Disord 2009;19:837-840.
5. Filosto M, Scarpelli M, Tonin P, Testi S, Cotelli MS, Rossi M, Salvi A, Grottolo A, Vielmi V, Todeschini A, Fabrizi GM, Padovani A, Tomelleri G: Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy. J Inherit Metab Dis 2011;34:1199-1203.
6. Nishino I, Spinazzola A, Hirano M: Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 1999;283:689-692.
7. Libernini L, Lupis C, Mastrangelo M, Carrozzo R, Santorelli FM, Inghilleri M, Leuzzi V: Mitochondrial Neurogastrointestinal Encephalomyopathy: novel pathogenic mutations in thymidine phosphorylase gene in two Italian brothers. Neuropediatrics 2012;43:201-218.
8. Martí R, Spinazzola A, Tadesse S, Nishino I, Nishigaki Y, Hirano M: Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays. Clin Chem 2004;50:120-124.
9. Halter J, Schüpbach WM, Casali C, Elhasid R, Fay K, Hammans S, Illa I, Kappeler L, Krähenbühl S, Lehmann T, Mandel H, Marti R, Mattle H, Orchard K, Savage D, Sue CM, Valcarcel D, Gratwohl A, Hirano M: Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): A consensus conference proposal for a standardized approach. Bone Marrow Transplant 2011;46:330-337.
10. Moran NF, Bain MD, Muquit MM, Bax BE: Carrier erythrocyte entrapped thymidine phosphorylase therapy for MNGIE. Neurology 2008;71:686-688.
11. Torres-Torronteras J, Gómez A, Eixarch H, Palenzuela L, Pizzorno G, Hirano M, Andreu AL, Barquinero J, Martí R: Hematopoietic gene therapy restores thymidine phosphorylase activity in a cell culture and a murine model of MNGIE. Gene Ther 2011;18:795-806.
12. Scarpelli M, Cotelli MS, Mancuso M, Tomelleri G, Tonin P, Baronchelli C, Vielmi V, Gregorelli V, Todeschini A, Padovani A, Filosto M: Current options in the treatment of mitochondrial diseases. Recent Pat CNS Drug Discov 2010;5:203-209.
13. Martí R, Verschuuren J, Buchman A, Hirano I, Tadesse S, van Kuilenburg AB, van Gennip AH, Poorthuis BJ, Hirano M: Late-onset MNGIE due to partial loss of thymidine phosphorylase activity. Ann Neurol 2005;58:649-652.
14. Hirano M, Garone C, Quinzii C: CoQ(10) deficiencies and MNGIE: Two treatable mitochondrial disorders. Biochim Biophys Acta 2012;1820:625-631.
15. Filosto M, Scarpelli M, Tonin P, Lucchini G, Pavan F, Santus F, Parini R, Donati MA, Cotelli MS, Vielmi V, Todeschini A, Canonico F, Tomelleri G, Padovani A, Rovelli A: Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy. J Neurol 2012;259:2699-2706.