Postpyloric nutrition to prevent emergencies – a step away from repeat inpatient care in children with methylmalonic acidaemia and propionic acidaemia – a case report of four cases

Autor: Stefan Schumann, Frank Risto Rommel, Serdar Cantez, Evdokia Alexanidou, Clemens Kamrath, Jan de Laffolie

Publikováno v: Frontiers in Pediatrics, Vol 11 (2023)

Methylmalonic acidaemia (MMA) and propionic acidaemia (PA) are very rare autosomal recessive inherited metabolic diseases from the group of organoacidopathies. Katabolism due to minor infections can lead to metabolic decompensation including hyperamm

Externí odkaz: https://doaj.org/article/7c7e28127c6f4d75b1bb7f8d343fec3d

Prenatal Diagnosis of Two Common Inborn Errors of Metabolism by Genetic and Mass Spectrometric Analysis of Amniotic Fluid

Autor: Congcong Shi, Sitao Li, Yu Gao, Zhirong Deng, Hu Hao, Xin Xiao

Publikováno v: Frontiers in Pediatrics, Vol 10 (2022)

Methylmalonic acidaemia (MMA) and ornithine transcarbamylase deficiency (OTCD) are both intoxication-type inborn errors of metabolism (IEM). Presently, genetic testing is the primary method for prenatally diagnosing these diseases. However, some repo

Externí odkaz: https://doaj.org/article/37787590bc87430ea03dd240ec695616

Postpyloric nutrition to prevent emergencies - a step away from repeat inpatient care in children with methylmalonic acidaemia and propionic acidaemia - a case report of four cases

Autor: Schumann, Stefan, Rommel, Frank Risto, Cantez, Serdar, Alexanidou, Evdokia, Kamrath, Clemens, de Laffolie, Jan, Justus Liebig University Giessen

Methylmalonic acidaemia (MMA) and propionic acidaemia (PA) are very rare autosomal recessive inherited metabolic diseases from the group of organoacidopathies. Katabolism due to minor infections can lead to metabolic decompensation including hyperamm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0a6c16ea5151e3ff4bc8f96b4183377f

Dietary practices in methylmalonic acidaemia: a European survey

Autor: Rachel Skeath, Annemiek M. J. van Wegberg, Kit Kaalund Hansen, Isidro Vitoria, Sandrine Dubois, Júlio César Rocha, Helle Vestergaard, Alice Dianin, François Feillet, Giorgia Gallo, Karen Corthouts, Sandrine Le Verge, Camille Jankowski, Anita MacDonald, Kathleen Ross, Irene Kok, Sandra Bollhalder, Linn Helene Stolen, Heidi Chan, F.J. White, Agnieszka Kowalik, Alison Tooke, David Cassiman, Foekje de Boer, Amaya Belanger-Quintana, Ana Faria, Hazel Rogozinski, Lucy White, Marleen van Driessche, Alex Pinto, Heidi Zweers, M.F. Almeida, R. Lilje, Gudrun Elise Kahrs, Margreet van Rijn, Carla Vasconcelos, C. Timmer, Lyndsey Tomlinson, Cornelia Maddalon, A. Terry, Kristel Vande Kerckhove, Esther van Dam, Ilana Jones, Elisabeth Sjoqvist, U. Meyer, Liesbeth van der Ploeg, Ulrike Och, Marjorie Dixon, Ilaria Fasan, Diana Webster, Dorine T.A.M. van den Hurk, Joanna Gribben, Helena Champion, Catherine Jouault, Kath Singleton, Katharina Dokoupil, Anne Daly, Jaime Dalmau, Elisabeth Favre, Doris Mayr, Silvia Maria Bernabei, An de Meyer, François Eyskens, A. Liguori, Catherine Laguerre, Nienke Ter Horst, Carmen Rohde, Sharon Evans, An Desloovere, Corinne De Laet, Andrea Schlune, Martine Robert, M. Assoun, Anna Fekete, Isabelle Saruggia, Cerys Gingell, Renske Janssen-Regelink, A. Micciche

Publikováno v: Journal of Pediatric Endocrinology & Metabolism, 33, 147-155
Journal of Pediatric Endocrinology & Metabolism, 33, 1, pp. 147-155
Journal of pediatric endocrinology and metabolism
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Journal of pediatric endocrinology & metabolism, 33(1), 147-155. Walter de Gruyter GmbH
Journal of Pediatric Endocrinology & Metabolism, 33(1), 147-155. De Gruyter

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecda01fc69de777edfdb2c12a7795396
https://doi.org/10.1515/jpem-2019-0277

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