| Literature DB >> 31846426 |
Alex Pinto1, Sharon Evans2, Anne Daly2, Manuela Ferreira Almeida3,4,5, Murielle Assoun6, Amaya Belanger-Quintana7, Silvia Maria Bernabei8, Sandra Bollhalder9, David Cassiman10, Helena Champion11, Heidi Chan12, Karen Corthouts10, Jaime Dalmau13, Foekje de Boer14, Corinne De Laet15, An de Meyer16, An Desloovere17, Alice Dianin18, Marjorie Dixon19, Katharina Dokoupil20, Sandrine Dubois6, Francois Eyskens16, Ana Faria21, Ilaria Fasan22, Elisabeth Favre23, François Feillet23, Anna Fekete24, Giorgia Gallo8, Cerys Gingell25, Joanna Gribben12, Kit Kaalund Hansen26, Nienke Ter Horst27, Camille Jankowski28, Renske Janssen-Regelink29, Ilana Jones16, Catherine Jouault30, Gudrun Elise Kahrs31, Irene Kok32, Agnieszka Kowalik33, Catherine Laguerre34, Sandrine Le Verge6, Alessandra Liguori8, Rina Lilje35, Cornelia Maddalon36, Doris Mayr37, Uta Meyer38, Avril Micciche12, Ulrike Och39, Martine Robert15, Júlio César Rocha3,5,40, Hazel Rogozinski41, Carmen Rohde42, Kathleen Ross43, Isabelle Saruggia44, Andrea Schlune45, Kath Singleton46, Elisabeth Sjoqvist47, Rachel Skeath19, Linn Helene Stolen35, Allyson Terry48, Corrie Timmer49, Lyndsey Tomlinson50, Alison Tooke25, Kristel Vande Kerckhove10, Esther van Dam14, Dorine van den Hurk32, Liesbeth van der Ploeg51, Marleen van Driessche17, Margreet van Rijn14, Annemiek van Wegberg29, Carla Vasconcelos52, Helle Vestergaard53, Isidro Vitoria13, Diana Webster28, Fiona White54, Lucy White55, Heidi Zweers29, Anita MacDonald2.
Abstract
Background 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. Aim To describe the dietary management of patients with MMA across Europe. Methods 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 (0-6 months; 7-12 months; 1-10 years; 11-16 years; >16 years). Results 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. Conclusions 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.Entities:
Keywords: methylmalonic acidaemia; natural protein; precursor-free amino acids; protein-restricted diet
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Year: 2020 PMID： 31846426 DOI： 10.1515/jpem-2019-0277
Source DB: PubMed Journal: J Pediatr Endocrinol Metab ISSN： 0334-018X Impact factor: 1.634