title: ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy.
abstract: Mitochondrial neuro-gastro-intestinal encephalomyopathy (MNGIE) is a rare and unavoidably fatal disease due to mutations in thymidine phosphorylase (TP). Clinically it is characterized by gastrointestinal dysfunction, malnutrition/cachexia and neurological manifestations. MNGIE diagnosis remains a challenge mainly because of the complexity and rarity of the disease. Thus, our purposes were to promote a better knowledge of the disease in Emilia-Romagna region (ERR) by creating an accurate and dedicated network; to establish the minimal prevalence of MNGIE in Italy starting from ERR. Blood TP activity level was used as screening test to direct candidates to complete diagnostic work-up. During the study period of 1 year, only 10/71 units of ERR recruited 14 candidates. Their screening did not show TP activity changes. An Italian patient not resident in ERR was actually proved to have MNGIE. At the end of study in Italy there were nine cases of MNGIE; thus, the Italian prevalence of the disease is ~0.15/1,000,000 as a gross estimation. Our study confirms that MNGIE diagnosis is a difficult process which reflects the rarity of the disease and, as a result, a low level of awareness among specialists and physicians. Having available novel therapeutic options (e.g., allogenic hematopoietic stem cell transplantation and, more recently, liver transplantation) and an easy screening test, an early diagnosis should be sought before tissue damage occurs irreversibly.
authors.affiliation: Department of Surgical and Medical Sciences (DIMEC), University of Bologna, Bologna, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: D'Angelo
authors.affiliation: Neurology Unit, St. Orsola-Malpighi Hospital, Bologna, Italy.
authors.forename: Rita
authors.initials: R
authors.lastname: Rinaldi
authors.affiliation: IRCSS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Via Altura 3, 40100, Bologna, Italy.|Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
authors.forename: Valerio
authors.initials: V
authors.lastname: Carelli
authors.affiliation: Department of Surgical and Medical Sciences (DIMEC), University of Bologna, Bologna, Italy.
authors.forename: Elisa
authors.initials: E
authors.lastname: Boschetti
authors.affiliation: IRCSS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Via Altura 3, 40100, Bologna, Italy.
authors.forename: Leonardo
authors.initials: L
authors.lastname: Caporali
authors.affiliation: IRCSS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Via Altura 3, 40100, Bologna, Italy.
authors.forename: Mariantonietta
authors.initials: M
authors.lastname: Capristo
authors.affiliation: Department of Medico-Surgical Sciences and Biotechnologies, University 'La Sapienza', Rome, Italy.
authors.forename: Carlo
authors.initials: C
authors.lastname: Casali
authors.affiliation: Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
authors.forename: Giovanna
authors.initials: G
authors.lastname: Cenacchi
authors.affiliation: Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
authors.forename: Laura Ludovica
authors.initials: LL
authors.lastname: Gramegna
authors.affiliation: Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
authors.forename: Raffaele
authors.initials: R
authors.lastname: Lodi
authors.affiliation: Department of Surgical and Medical Sciences (DIMEC), University of Bologna, Bologna, Italy.
authors.forename: Antonio Daniele
authors.initials: AD
authors.lastname: Pinna
authors.affiliation: Department of Surgical and Medical Sciences (DIMEC), University of Bologna, Bologna, Italy.
authors.forename: Loris
authors.initials: L
authors.lastname: Pironi
authors.affiliation: Institute of Hematology "L. & A. Seragnoli", St. Orsola-Malpighi Hospital, Bologna, Italy.
authors.forename: Marta
authors.initials: M
authors.lastname: Stanzani
authors.affiliation: Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
authors.forename: Caterina
authors.initials: C
authors.lastname: Tonon
authors.affiliation: IRCSS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Via Altura 3, 40100, Bologna, Italy. roberto.dalessandro@ausl.bologna.it.
authors.forename: Roberto
authors.initials: R
authors.lastname: D'Alessandro
authors.affiliation: Department of Surgical and Medical Sciences (DIMEC), University of Bologna, Bologna, Italy.
authors.forename: Roberto
authors.initials: R
authors.lastname: De Giorgio
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D007558:Italy / Q000453:epidemiology; D007802:Language; D008297:Male; D008875:Middle Aged; D017237:Mitochondrial Encephalomyopathies / Q000453:epidemiology* / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D013939:Thymidine Phosphorylase / Q000235:genetics; D055815:Young Adult
chemical_list: D013939:Thymidine Phosphorylase
keywords: Allogenic hematopoietic stem cell transplantation; Mitochondrial neuro-gastro-intestinal encephalomyopathy; Orthotopic liver transplantation; Prevalence