Dietary practices in methylmalonic acidaemia: a European survey.

Pinto, Alex and Evans, Sharon and Daly, Anne and Almeida, Manuela Ferreira and Assoun, Murielle and Belanger-Quintana, Amaya and Bernabei, Silvia Maria and Bollhalder, Sandra and Cassiman, David and Champion, Helena and Chan, Heidi and Corthouts, Karen and Dalmau, Jaime and Boer, Foekje de and Laet, Corinne De and Meyer, An de and Desloovere, An and Dianin, Alice and Dixon, Marjorie and Dokoupil, Katharina and Dubois, Sandrine and Eyskens, Francois and Faria, Ana and Fasan, Ilaria and Favre, Elisabeth and Feillet, François and Fekete, Anna and Gallo, Giorgia and Gingell, Cerys and Gribben, Joanna and Hansen, Kit Kaalund and Horst, Nienke Ter and Jankowski, Camille and Janssen-Regelink, Renske and Jones, Ilana and Jouault, Catherine and Kahrs, Gudrun Elise and Kok, Irene and Kowalik, Agnieszka and Laguerre, Catherine and Verge, Sandrine Le and Liguori, Alessandra and Lilje, Rina and Maddalon, Cornelia and Mayr, Doris and Meyer, Uta and Micciche, Avril and Och, Ulrike and Robert, Martine and Rocha, Júlio César and Rogozinski, Hazel and Rohde, Carmen and Ross, Kathleen and Saruggia, Isabelle and Schlune, Andrea and Singleton, Kath and Sjoqvist, Elisabeth and Skeath, Rachel and Stolen, Linn Helene and Terry, Allyson and Timmer, Corrie and Tomlinson, Lyndsey and Tooke, Alison and Kerckhove, Kristel Vande and van Dam, Esther and Hurk, Dorine van den and Ploeg, Liesbeth van der and van Driessche, Marleen and van Rijn, Margreet and Wegberg, Annemiek van and Vasconcelos, Carla and Vestergaard, Helle and Vitoria, Isidro and Webster, Diana and White, Fiona and White, Lucy and Zweers, Heidi and MacDonald, Anita (2019) Dietary practices in methylmalonic acidaemia: a European survey. Journal of pediatric endocrinology & metabolism : JPEM. ISSN 2191-0251.

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Official URL: https://www.degruyter.com/view/j/jpem.ahead-of-pri...

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.

Item Type: Article
Subjects: WD Diseases and disorders of systemic, metabolic or environmental origin > WD10 Diet and nutrition
WS Paediatrics. Child health
Divisions: Emergency Services > Therapies
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Depositing User: Mrs Yolande Brookes
Date Deposited: 20 Dec 2019 15:43
Last Modified: 20 Dec 2019 15:43
URI: http://www.repository.uhblibrary.co.uk/id/eprint/2707

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