International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up

• Type of Material: Article
• Authors: Lindsey Welling, Emma Children’s Hospital; Laurie E. Bernstein, University of Colorado; Gerard T. Berry, Harvard Medical School; Alberto B. Burlina, University of Padua; Francois Eyskens, Antwerp University Hospital; Matthias Gautschi, University Children's Hospital; Stephanie Grunewald, University College London; Cynthia S. Gubbels, Harvard Medical School; Ina Knerr, Temple St. Children's University Hospital; Philippe Labrune, Hopital Antoine Béclère; Johanna H. van der Lee, Emma Children’s Hospital; Anita MacDonald, Birmingham Children's Hospital; Elaine Murphy, National Hospital for Neurology and Neurosurgery; Pat A. Portnoi, Galactosemia Support Group; Katrin Ounap, University of Tartu; Nancy L. Potter, Washington State University; M. Estela Rubio-Gozalbo, Maastricht University; Jessica B Spencer, Emory University; Inge Timmers, Maastricht University; Elieen P. Treacy, Temple St. Children's University Hospital; Sandra C. Van Calcar, Oregon Health and Science University; Susan E. Waisbren, Boston Children's Hospital; Annet M. Bosch, Emma Children’s Hospital
• Language: English
• Date: 2017-03-01
• Publisher: Wiley
• Publication Version: Final Published Version
• Copyright Statement: © 2016, The Author(s).
• License: Creative Commons Attribution 4.0 International
• Final Published Version (URL): http://dx.doi.org/10.1007/s10545-016-9990-5
• Title of Journal or Parent Work: Journal of Inherited Metabolic Disease
• ISSN: 0141-8955
• Volume: 40
• Issue: 2
• Start Page: 171
• End Page: 176
• Grant/Funding Information: The initial GalNet meeting was financially supported by The Netherlands Organisation for Scientific Research (NWO; http://www.nwo.nl). The final consensus meeting was financially supported by the United States Galactosemia Foundation Inc. (patient organization; http://www.galactosemia.org/). The authors confirm independence from the sponsors; the content of the article has not been influenced by the sponsors.
• Keywords: Science & Technology; Endocrinology & Metabolism; Medicine, Research & Experimental; Life Sciences & Biomedicine; Research & Experimental Medicine; Genetics & Heredity
• Research Categories: Biology, Genetics

Abstract

Classical galactosemia (CG) is an inborn error of galactose metabolism. Evidence-based guidelines for the treatment and follow-up of CG are currently lacking, and treatment and follow-up have been demonstrated to vary worldwide. To provide patients around the world the same state-of-the-art in care, members of The Galactosemia Network (GalNet) developed an evidence-based and internationally applicable guideline for the diagnosis, treatment, and follow-up of CG. The guideline was developed using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) system. A systematic review of the literature was performed, after key questions were formulated during an initial GalNet meeting. The first author and one of the working group experts conducted data-extraction. All experts were involved in data-extraction. Quality of the body of evidence was evaluated and recommendations were formulated. Whenever possible recommendations were evidence-based, if not they were based on expert opinion. Consensus was reached by multiple conference calls, consensus rounds via e-mail and a final consensus meeting. Recommendations addressing diagnosis, dietary treatment, biochemical monitoring, and follow-up of clinical complications were formulated. For all recommendations but one, full consensus was reached. A 93 % consensus was reached on the recommendation addressing age at start of bone density screening. During the development of this guideline, gaps of knowledge were identified in most fields of interest, foremost in the fields of treatment and follow-up.