title: International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.
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.
authors.affiliation: Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
authors.forename: Lindsey
authors.initials: L
authors.lastname: Welling
authors.affiliation: 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, USA.
authors.forename: Laurie E
authors.initials: LE
authors.lastname: Bernstein
authors.affiliation: Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.|Broad Institute of MIT and Harvard, Cambridge, MA, USA.
authors.forename: Gerard T
authors.initials: GT
authors.lastname: Berry
authors.affiliation: Department of Pediatrics, Metabolic Unit, University Hospital, University of Padova, Padova, Italy.
authors.forename: Alberto B
authors.initials: AB
authors.lastname: Burlina
authors.affiliation: Department of Metabolic Disorders in Children, Antwerp University Hospital UZA, Edegem, Belgium.
authors.forename: François
authors.initials: F
authors.lastname: Eyskens
authors.affiliation: University Children's Hospital, Pediatric Endocrinology, Diabetes and Metabolism, and Institute of Clinical Chemistry, Inselspital, University of Bern, Bern, Switzerland.
authors.forename: Matthias
authors.initials: M
authors.lastname: Gautschi
authors.affiliation: Metabolic Unit, Great Ormond Street Hospital and Institute of Child Health, University College London, London, UK.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Grünewald
authors.affiliation: Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.|Broad Institute of MIT and Harvard, Cambridge, MA, USA.
authors.forename: Cynthia S
authors.initials: CS
authors.lastname: Gubbels
authors.affiliation: National Centre for Inherited Metabolic Disorders, Temple St. Children's University Hospital, Dublin, Ireland.
authors.forename: Ina
authors.initials: I
authors.lastname: Knerr
authors.affiliation: Department of Pediatrics, APHP, Hopital Antoine Béclère, Cedex Clamart, France.
authors.forename: Philippe
authors.initials: P
authors.lastname: Labrune
authors.affiliation: Pediatric Clinical Research Office, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: Johanna H
authors.initials: JH
authors.lastname: van der Lee
authors.affiliation: Birmingham Children's Hospital, Steelhouse Lane, Birmingham, UK.
authors.forename: Anita
authors.initials: A
authors.lastname: MacDonald
authors.affiliation: Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
authors.forename: Elaine
authors.initials: E
authors.lastname: Murphy
authors.affiliation: Medical Advisory Panel, Galactosemia Support Group UK, West Midlands, UK.
authors.forename: Pat A
authors.initials: PA
authors.lastname: Portnoi
authors.affiliation: Department of Pediatrics, University of Tartu, Tartu, Estonia.|Department of Genetics, Tartu University Hospital, Tartu, Estonia.
authors.forename: Katrin
authors.initials: K
authors.lastname: Õunap
authors.affiliation: Department of Speech and Hearing Sciences, Washington State University, Spokane, WA, USA.
authors.forename: Nancy L
authors.initials: NL
authors.lastname: Potter
authors.affiliation: Department of Pediatrics and Laboratory Genetic Metabolic Diseases, Maastricht University Medical Centre, Maastricht, The Netherlands.
authors.forename: M Estela
authors.initials: ME
authors.lastname: Rubio-Gozalbo
authors.affiliation: Department of Gynecology and Obstetrics, School of Medicine, Emory University, Atlanta, Georgia.
authors.forename: Jessica B
authors.initials: JB
authors.lastname: Spencer
authors.affiliation: Department of Cognitive Neuroscience, Maastricht University, Maastricht, The Netherlands.
authors.forename: Inge
authors.initials: I
authors.lastname: Timmers
authors.affiliation: National Centre for Inherited Metabolic Disorders, Temple St. Children's University Hospital and Mater Misericordiae University Hospital, Dublin, Ireland.
authors.forename: Eileen P
authors.initials: EP
authors.lastname: Treacy
authors.affiliation: Department of Molecular and Medical Genetics, School of Medicine, Oregon Health and Science University, Portland, OR, USA.
authors.forename: Sandra C
authors.initials: SC
authors.lastname: Van Calcar
authors.affiliation: Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
authors.forename: Susan E
authors.initials: SE
authors.lastname: Waisbren
authors.affiliation: Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. a.m.bosch@amc.uva.nl.
authors.forename: Annet M
authors.initials: AM
authors.lastname: Bosch
mesh_terms: D019317:Evidence-Based Medicine / Q000379:methods; D005500:Follow-Up Studies; D005690:Galactose / Q000378:metabolism; D005693:Galactosemias / Q000175:diagnosis* / Q000188:drug therapy* / Q000378:metabolism; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000188:drug therapy
chemical_list: D005690:Galactose