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Multicenter Study
. 2020 Jan 28;33(1):147-155.
doi: 10.1515/jpem-2019-0277.

Dietary practices in methylmalonic acidaemia: a European survey

Alex Pinto  1 , Sharon Evans  2 , Anne Daly  2 , Manuela Ferreira Almeida  3   4   5 , Murielle Assoun  6 , Amaya Belanger-Quintana  7 , Silvia Maria Bernabei  8 , Sandra Bollhalder  9 , David Cassiman  10 , Helena Champion  11 , Heidi Chan  12 , Karen Corthouts  10 , Jaime Dalmau  13 , Foekje de Boer  14 , Corinne De Laet  15 , An de Meyer  16 , An Desloovere  17 , Alice Dianin  18 , Marjorie Dixon  19 , Katharina Dokoupil  20 , Sandrine Dubois  6 , Francois Eyskens  16 , Ana Faria  21 , Ilaria Fasan  22 , Elisabeth Favre  23 , François Feillet  23 , Anna Fekete  24 , Giorgia Gallo  8 , Cerys Gingell  25 , Joanna Gribben  12 , Kit Kaalund Hansen  26 , Nienke Ter Horst  27 , Camille Jankowski  28 , Renske Janssen-Regelink  29 , Ilana Jones  16 , Catherine Jouault  30 , Gudrun Elise Kahrs  31 , Irene Kok  32 , Agnieszka Kowalik  33 , Catherine Laguerre  34 , Sandrine Le Verge  6 , Alessandra Liguori  8 , Rina Lilje  35 , Cornelia Maddalon  36 , Doris Mayr  37 , Uta Meyer  38 , Avril Micciche  12 , Ulrike Och  39 , Martine Robert  15 , Júlio César Rocha  3   5   40 , Hazel Rogozinski  41 , Carmen Rohde  42 , Kathleen Ross  43 , Isabelle Saruggia  44 , Andrea Schlune  45 , Kath Singleton  46 , Elisabeth Sjoqvist  47 , Rachel Skeath  19 , Linn Helene Stolen  35 , Allyson Terry  48 , Corrie Timmer  49 , Lyndsey Tomlinson  50 , Alison Tooke  25 , Kristel Vande Kerckhove  10 , Esther van Dam  14 , Dorine van den Hurk  32 , Liesbeth van der Ploeg  51 , Marleen van Driessche  17 , Margreet van Rijn  14 , Annemiek van Wegberg  29 , Carla Vasconcelos  52 , Helle Vestergaard  53 , Isidro Vitoria  13 , Diana Webster  28 , Fiona White  54 , Lucy White  55 , Heidi Zweers  29 , Anita MacDonald  2
Affiliations
Multicenter Study

Dietary practices in methylmalonic acidaemia: a European survey

Alex Pinto et al. J Pediatr Endocrinol Metab. .

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.

Keywords: methylmalonic acidaemia; natural protein; precursor-free amino acids; protein-restricted diet.

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