Journal article
International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up
Journal of inherited metabolic disease, Vol.40(2), pp.171-176
03/2017
Handle:
https://hdl.handle.net/2376/114979
PMID: 27858262
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.
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Details
- Title
- International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up
- Creators
- Lindsey Welling - Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The NetherlandsLaurie E Bernstein - Section of Clinical Genetics and Metabolism, Inherited Metabolic Disease Nutrition Department, University of Colorado-Denver School of Medicine, The Children's Hospital Colorado, Aurora, CO, USAGerard T Berry - Broad Institute of MIT and Harvard, Cambridge, MA, USAAlberto B Burlina - Department of Pediatrics, Metabolic Unit, University Hospital, University of Padova, Padova, ItalyFrançois Eyskens - Department of Metabolic Disorders in Children, Antwerp University Hospital UZA, Edegem, BelgiumMatthias Gautschi - University Children's Hospital, Pediatric Endocrinology, Diabetes and Metabolism, and Institute of Clinical Chemistry, Inselspital, University of Bern, Bern, SwitzerlandStephanie Grünewald - Metabolic Unit, Great Ormond Street Hospital and Institute of Child Health, University College London, London, UKCynthia S Gubbels - Broad Institute of MIT and Harvard, Cambridge, MA, USAIna Knerr - National Centre for Inherited Metabolic Disorders, Temple St. Children's University Hospital, Dublin, IrelandPhilippe Labrune - Department of Pediatrics, APHP, Hopital Antoine Béclère, Cedex Clamart, FranceJohanna H van der Lee - Pediatric Clinical Research Office, Emma Children's Hospital, Academic Medical Center, Amsterdam, The NetherlandsAnita MacDonald - Birmingham Children's Hospital, Steelhouse Lane, Birmingham, UKElaine Murphy - Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UKPat A Portnoi - Medical Advisory Panel, Galactosemia Support Group UK, West Midlands, UKKatrin Õunap - Department of Genetics, Tartu University Hospital, Tartu, EstoniaNancy L Potter - Department of Speech and Hearing Sciences, Washington State University, Spokane, WA, USAM Estela Rubio-Gozalbo - Department of Pediatrics and Laboratory Genetic Metabolic Diseases, Maastricht University Medical Centre, Maastricht, The NetherlandsJessica B Spencer - Department of Gynecology and Obstetrics, School of Medicine, Emory University, Atlanta, GeorgiaInge Timmers - Department of Cognitive Neuroscience, Maastricht University, Maastricht, The NetherlandsEileen P Treacy - National Centre for Inherited Metabolic Disorders, Temple St. Children's University Hospital and Mater Misericordiae University Hospital, Dublin, IrelandSandra C Van Calcar - Department of Molecular and Medical Genetics, School of Medicine, Oregon Health and Science University, Portland, OR, USASusan E Waisbren - Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USAAnnet M Bosch - Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. a.m.bosch@amc.uva.nl
- Publication Details
- Journal of inherited metabolic disease, Vol.40(2), pp.171-176
- Academic Unit
- Speech and Hearing Sciences, Department of
- Publisher
- United States
- Identifiers
- 99900547590101842
- Language
- English
- Resource Type
- Journal article