{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,23]],"date-time":"2025-12-23T12:32:35Z","timestamp":1766493155348,"version":"3.40.5"},"reference-count":22,"publisher":"Walter de Gruyter GmbH","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,1,28]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2019-0277_s_999_w2aab3b7c43b1b6b1aab1c16b1Aa\">\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>The dietary management of methylmalonic acidaemia (MMA) is a low-protein diet providing sufficient energy to avoid catabolism and to limit production of methylmalonic acid. The goal is to achieve normal growth, good nutritional status and the maintenance of metabolic stability.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2019-0277_s_998_w2aab3b7c43b1b6b1aab1c16b2Aa\">\n                  <jats:title>Aim<\/jats:title>\n                  <jats:p>To describe the dietary management of patients with MMA across Europe.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2019-0277_s_997_w2aab3b7c43b1b6b1aab1c16b3Aa\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>A cross-sectional questionnaire was sent to European colleagues managing inherited metabolic disorders (IMDs) (n=53) with 27 questions about the nutritional management of organic acidaemias. Data were analysed by different age ranges (0\u20136 months; 7\u201312 months; 1\u201310 years; 11\u201316 years; &gt;16 years).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2019-0277_s_996_w2aab3b7c43b1b6b1aab1c16b4Aa\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Questionnaires were returned from 53 centres. Twenty-five centres cared for 80 patients with MMA vitamin B12 responsive (MMAB12r) and 43 centres managed 215 patients with MMA vitamin B12 non-responsive (MMAB12nr). For MMAB12r patients, 44% of centres (n=11\/25) prescribed natural protein below the World Health Organization\/Food and Agriculture Organization\/United Nations University (WHO\/FAO\/UNU) 2007 safe levels of protein intake in at least one age range. Precursor-free amino acids (PFAA) were prescribed by 40% of centres (10\/25) caring for 36% (29\/80) of all the patients. For MMAB12nr patients, 72% of centres (n=31\/43) prescribed natural protein below the safe levels of protein intake (WHO\/FAO\/UNU 2007) in at least one age range. PFAA were prescribed by 77% of centres (n=33\/43) managing 81% (n=174\/215) of patients. In MMAB12nr patients, 90 (42%) required tube feeding: 25 via a nasogastric tube and 65 via a gastrostomy.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2019-0277_s_995_w2aab3b7c43b1b6b1aab1c16b5Aa\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>A high percentage of centres used PFAA in MMA patients together with a protein prescription that provided less than the safe levels of natural protein intake. However, there was inconsistent practices across Europe. Long-term efficacy studies are needed to study patient outcome when using PFAA with different severities of natural protein restrictions in patients with MMA to guide future practice.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2019-0277","type":"journal-article","created":{"date-parts":[[2019,12,17]],"date-time":"2019-12-17T09:02:21Z","timestamp":1576573341000},"page":"147-155","source":"Crossref","is-referenced-by-count":10,"title":["Dietary practices in methylmalonic acidaemia: a European survey"],"prefix":"10.1515","volume":"33","author":[{"given":"Alex","family":"Pinto","sequence":"first","affiliation":[{"name":"Dietetic Department , Birmingham Women\u2019s and Children\u2019s Hospital, Steelhouse Lane , Birmingham B4 6NH , UK"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7654-3621","authenticated-orcid":false,"given":"Sharon","family":"Evans","sequence":"additional","affiliation":[{"name":"Birmingham Women\u2019s and Children\u2019s Hospital , Birmingham , UK"}]},{"given":"Anne","family":"Daly","sequence":"additional","affiliation":[{"name":"Birmingham Women\u2019s and Children\u2019s Hospital , Birmingham , UK"}]},{"given":"Manuela Ferreira","family":"Almeida","sequence":"additional","affiliation":[{"name":"Centro de Gen\u00e9tica M\u00e9dica , Centro Hospitalar Universit\u00e1rio do Porto \u2013 CHUP , Porto , Portugal"},{"name":"Unit for Multidisciplinary Research in Biomedicine, Abel Salazar Institute of Biomedical Sciences , University of Porto \u2013 UMIB\/ICBAS\/UP , Porto , Portugal"},{"name":"Centro de Refer\u00eancia na \u00e1rea de Doen\u00e7as Heredit\u00e1rias do Metabolismo , Centro Hospitalar Universit\u00e1rio do Porto \u2013 CHUP , Porto , Portugal"}]},{"given":"Murielle","family":"Assoun","sequence":"additional","affiliation":[{"name":"Centre de r\u00e9f\u00e9rence des maladies h\u00e9r\u00e9ditaires du m\u00e9tabolisme , H\u00f4pital Necker Enfants Malades , Paris , France"}]},{"given":"Amaya","family":"Belanger-Quintana","sequence":"additional","affiliation":[{"name":"Unidad de Enfermedades Metabolicas, Servicio de Pediatria, Hospital Ramon y Cajal , Madrid , Spain"}]},{"given":"Silvia Maria","family":"Bernabei","sequence":"additional","affiliation":[{"name":"Children Hospital Bambino Ges\u00f9 , Division of Artificial Nutrition , Rome , Italy"}]},{"given":"Sandra","family":"Bollhalder","sequence":"additional","affiliation":[{"name":"Univerisity Hospital Zurich , Zurich , Switzerland"}]},{"given":"David","family":"Cassiman","sequence":"additional","affiliation":[{"name":"Metabolic Center , University Hospitals Leuven and KU Leuven , Leuven , Belgium"}]},{"given":"Helena","family":"Champion","sequence":"additional","affiliation":[{"name":"Addenbrooke\u2019s Hospital , Cambridge , UK"}]},{"given":"Heidi","family":"Chan","sequence":"additional","affiliation":[{"name":"Evelina London Children\u2019s Hospital , Guy\u2019s and St. Thomas\u2019 NHS 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Belgium"}]},{"given":"Alice","family":"Dianin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases , University Hospital of Verona , Verona , Italy"}]},{"given":"Marjorie","family":"Dixon","sequence":"additional","affiliation":[{"name":"Great Ormond Street Hospital for Children NHS Foundation Trust , London , UK"}]},{"given":"Katharina","family":"Dokoupil","sequence":"additional","affiliation":[{"name":"Dr. von Hauner Children\u2019s Hospital , Munich , Germany"}]},{"given":"Sandrine","family":"Dubois","sequence":"additional","affiliation":[{"name":"Centre de r\u00e9f\u00e9rence des maladies h\u00e9r\u00e9ditaires du m\u00e9tabolisme , H\u00f4pital Necker Enfants Malades , Paris , France"}]},{"given":"Francois","family":"Eyskens","sequence":"additional","affiliation":[{"name":"Center of Metabolic Diseases , University Hospital , Antwerp 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Poland"}]},{"given":"Catherine","family":"Laguerre","sequence":"additional","affiliation":[{"name":"Centre de Comp\u00e9tence de L\u2019H\u00f4pital des Enfants de Toulouse , Toulouse , France"}]},{"given":"Sandrine Le","family":"Verge","sequence":"additional","affiliation":[{"name":"Centre de r\u00e9f\u00e9rence des maladies h\u00e9r\u00e9ditaires du m\u00e9tabolisme , H\u00f4pital Necker Enfants Malades , Paris , France"}]},{"given":"Alessandra","family":"Liguori","sequence":"additional","affiliation":[{"name":"Children Hospital Bambino Ges\u00f9 , Division of Artificial Nutrition , Rome , Italy"}]},{"given":"Rina","family":"Lilje","sequence":"additional","affiliation":[{"name":"Oslo University Hospital , Oslo , Norway"}]},{"given":"Cornelia","family":"Maddalon","sequence":"additional","affiliation":[{"name":"University Children\u2019s Hospital Zurich , Zurich , 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Chabrol CHU Timone Enfant , Marseille , France"}]},{"given":"Andrea","family":"Schlune","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics, Neonatology and Pediatric Cardiology , University Children\u2019s Hospital, Heinrich Heine University , D\u00fcsseldorf , Germany"}]},{"given":"Kath","family":"Singleton","sequence":"additional","affiliation":[{"name":"University Hospital of Wales , Cardiff , UK"}]},{"given":"Elisabeth","family":"Sjoqvist","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital , University Hospital , Lund , Sweden"}]},{"given":"Rachel","family":"Skeath","sequence":"additional","affiliation":[{"name":"Great Ormond Street Hospital for Children NHS Foundation Trust , London , UK"}]},{"given":"Linn Helene","family":"Stolen","sequence":"additional","affiliation":[{"name":"Oslo University Hospital , Oslo , Norway"}]},{"given":"Allyson","family":"Terry","sequence":"additional","affiliation":[{"name":"Alder Hey Children\u2019s Hospital NHS Foundation Trust , Liverpool , UK"}]},{"given":"Corrie","family":"Timmer","sequence":"additional","affiliation":[{"name":"Amsterdam UMC , Amsterdam , The Netherlands"}]},{"given":"Lyndsey","family":"Tomlinson","sequence":"additional","affiliation":[{"name":"University Hospitals Birmingham NHS Foundation Trust , Birmingham , UK"}]},{"given":"Alison","family":"Tooke","sequence":"additional","affiliation":[{"name":"Nottingham University Hospitals , Nottingham , UK"}]},{"given":"Kristel Vande","family":"Kerckhove","sequence":"additional","affiliation":[{"name":"Metabolic Center , University Hospitals Leuven and KU Leuven , Leuven , Belgium"}]},{"given":"Esther","family":"van Dam","sequence":"additional","affiliation":[{"name":"University of Groningen, University Medical Center Groningen , Groningen , The Netherlands"}]},{"given":"Dorine van den","family":"Hurk","sequence":"additional","affiliation":[{"name":"Wilhelmina Children\u2019s Hospital , University Medical Centre Utrecht , Utrecht , The Netherlands"}]},{"given":"Liesbeth van der","family":"Ploeg","sequence":"additional","affiliation":[{"name":"Maastricht University Medical Centre+ (MUMC+) , Maastricht , The Netherlands"}]},{"given":"Marleen","family":"van Driessche","sequence":"additional","affiliation":[{"name":"University Hospital Ghent , Ghent , Belgium"}]},{"given":"Margreet","family":"van Rijn","sequence":"additional","affiliation":[{"name":"University of Groningen, University Medical Center Groningen , Groningen , The Netherlands"}]},{"given":"Annemiek van","family":"Wegberg","sequence":"additional","affiliation":[{"name":"Radboud University Medical Center , Nijmegen , The Netherlands"}]},{"given":"Carla","family":"Vasconcelos","sequence":"additional","affiliation":[{"name":"Centro Hospitalar S\u00e3o Jo\u00e3o \u2013 Unidade de Doen\u00e7as Metab\u00f3licas , Porto , Portugal"}]},{"given":"Helle","family":"Vestergaard","sequence":"additional","affiliation":[{"name":"National University Hospital , Copenhagen , Denmark"}]},{"given":"Isidro","family":"Vitoria","sequence":"additional","affiliation":[{"name":"Unit of Nutrition and Metabolopathies , Hospital La Fe , Valencia , Spain"}]},{"given":"Diana","family":"Webster","sequence":"additional","affiliation":[{"name":"Bristol Royal Hospital for Children , University Hospitals Bristol NHS Foundation Trust , Bristol , UK"}]},{"given":"Fiona","family":"White","sequence":"additional","affiliation":[{"name":"Central Manchester University Hospitals NHS Foundation Trust , Manchester , UK"}]},{"given":"Lucy","family":"White","sequence":"additional","affiliation":[{"name":"Sheffield Children\u2019s Hospital , Sheffield , UK"}]},{"given":"Heidi","family":"Zweers","sequence":"additional","affiliation":[{"name":"Radboud University Medical Center , Nijmegen , The Netherlands"}]},{"given":"Anita","family":"MacDonald","sequence":"additional","affiliation":[{"name":"Birmingham Women\u2019s and Children\u2019s Hospital , Birmingham , UK"}]}],"member":"374","published-online":{"date-parts":[[2019,12,16]]},"reference":[{"key":"2021021317253503940_j_jpem-2019-0277_ref_001_w2aab3b7c43b1b6b1ab2b2b1Aa","doi-asserted-by":"crossref","unstructured":"Oberholzer VG, Levin B, Burgess EA, Young WF. 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