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

Lindsey Welling¹, Laurie E Bernstein², Gerard T Berry^{3

4}, Alberto B Burlina⁵, François Eyskens⁶, Matthias Gautschi⁷, Stephanie Grünewald⁸, Cynthia S Gubbels^{3

4}, Ina Knerr⁹, Philippe Labrune¹⁰, Johanna H van der Lee¹¹, Anita MacDonald¹², Elaine Murphy¹³, Pat A Portnoi¹⁴, Katrin Õunap^{15

16}, Nancy L Potter¹⁷, M Estela Rubio-Gozalbo¹⁸, Jessica B Spencer¹⁹, Inge Timmers²⁰, Eileen P Treacy²¹, Sandra C Van Calcar²², Susan E Waisbren²³, Annet M Bosch²⁴; Galactosemia Network (GalNet)

Affiliations

¹ Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
² 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.
³ Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
⁴ Broad Institute of MIT and Harvard, Cambridge, MA, USA.
⁵ Department of Pediatrics, Metabolic Unit, University Hospital, University of Padova, Padova, Italy.
⁶ Department of Metabolic Disorders in Children, Antwerp University Hospital UZA, Edegem, Belgium.
⁷ University Children's Hospital, Pediatric Endocrinology, Diabetes and Metabolism, and Institute of Clinical Chemistry, Inselspital, University of Bern, Bern, Switzerland.
⁸ Metabolic Unit, Great Ormond Street Hospital and Institute of Child Health, University College London, London, UK.
⁹ National Centre for Inherited Metabolic Disorders, Temple St. Children's University Hospital, Dublin, Ireland.
¹⁰ Department of Pediatrics, APHP, Hopital Antoine Béclère, Cedex Clamart, France.
¹¹ Pediatric Clinical Research Office, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands.
¹² Birmingham Children's Hospital, Steelhouse Lane, Birmingham, UK.
¹³ Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
¹⁴ Medical Advisory Panel, Galactosemia Support Group UK, West Midlands, UK.
¹⁵ Department of Pediatrics, University of Tartu, Tartu, Estonia.
¹⁶ Department of Genetics, Tartu University Hospital, Tartu, Estonia.
¹⁷ Department of Speech and Hearing Sciences, Washington State University, Spokane, WA, USA.
¹⁸ Department of Pediatrics and Laboratory Genetic Metabolic Diseases, Maastricht University Medical Centre, Maastricht, The Netherlands.
¹⁹ Department of Gynecology and Obstetrics, School of Medicine, Emory University, Atlanta, Georgia.
²⁰ Department of Cognitive Neuroscience, Maastricht University, Maastricht, The Netherlands.
²¹ National Centre for Inherited Metabolic Disorders, Temple St. Children's University Hospital and Mater Misericordiae University Hospital, Dublin, Ireland.
²² Department of Molecular and Medical Genetics, School of Medicine, Oregon Health and Science University, Portland, OR, USA.
²³ Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
²⁴ Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. a.m.bosch@amc.uva.nl.

PMID: 27858262
PMCID: PMC5306419
DOI: 10.1007/s10545-016-9990-5

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

Lindsey Welling et al. J Inherit Metab Dis. 2017 Mar.

. 2017 Mar;40(2):171-176.

doi: 10.1007/s10545-016-9990-5. Epub 2016 Nov 17.

Authors

Affiliations

¹ Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands.
² 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.
³ Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
⁴ Broad Institute of MIT and Harvard, Cambridge, MA, USA.
⁵ Department of Pediatrics, Metabolic Unit, University Hospital, University of Padova, Padova, Italy.
⁶ Department of Metabolic Disorders in Children, Antwerp University Hospital UZA, Edegem, Belgium.
⁷ University Children's Hospital, Pediatric Endocrinology, Diabetes and Metabolism, and Institute of Clinical Chemistry, Inselspital, University of Bern, Bern, Switzerland.
⁸ Metabolic Unit, Great Ormond Street Hospital and Institute of Child Health, University College London, London, UK.
⁹ National Centre for Inherited Metabolic Disorders, Temple St. Children's University Hospital, Dublin, Ireland.
¹⁰ Department of Pediatrics, APHP, Hopital Antoine Béclère, Cedex Clamart, France.
¹¹ Pediatric Clinical Research Office, Emma Children's Hospital, Academic Medical Center, Amsterdam, The Netherlands.
¹² Birmingham Children's Hospital, Steelhouse Lane, Birmingham, UK.
¹³ Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
¹⁴ Medical Advisory Panel, Galactosemia Support Group UK, West Midlands, UK.
¹⁵ Department of Pediatrics, University of Tartu, Tartu, Estonia.
¹⁶ Department of Genetics, Tartu University Hospital, Tartu, Estonia.
¹⁷ Department of Speech and Hearing Sciences, Washington State University, Spokane, WA, USA.
¹⁸ Department of Pediatrics and Laboratory Genetic Metabolic Diseases, Maastricht University Medical Centre, Maastricht, The Netherlands.
¹⁹ Department of Gynecology and Obstetrics, School of Medicine, Emory University, Atlanta, Georgia.
²⁰ Department of Cognitive Neuroscience, Maastricht University, Maastricht, The Netherlands.
²¹ National Centre for Inherited Metabolic Disorders, Temple St. Children's University Hospital and Mater Misericordiae University Hospital, Dublin, Ireland.
²² Department of Molecular and Medical Genetics, School of Medicine, Oregon Health and Science University, Portland, OR, USA.
²³ Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
²⁴ Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands. a.m.bosch@amc.uva.nl.

PMID: 27858262
PMCID: PMC5306419
DOI: 10.1007/s10545-016-9990-5

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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Conflict of interest statement

Compliance with ethical standardsConflict of interestAnnet M. Bosch is in receipt of research grants from Nutricia and was a member of an advisory board for Nutricia.Laurie E. Bernstein declares that she has no conflict of interest.Gerard T. Berry declares that he has no conflict of interest.Alberto B. Burlina declares that he has no conflict of interest.Francois Eyskens declares that he has no conflict of interest.Matthias Gautschi declares that he has no conflict of interest.Stephanie Grünewald declares that she has no conflict of interest.Cynthia S. Gubbels declares that she has no conflict of interest.Ina Knerr declares that she has no conflict of interest.Philippe Labrune declares that he has no conflict of interest.Johanna H. van der Lee declares that she has no conflict of interest.Anita MacDonald is in receipt of research grants from Nutricia and Vitaflo International, and is a member of the Nutricia IMD Advisory Board and Arla Advisory Board.Elaine Murphy is in receipt of clinical trial funding from Vitaflo and received travel support to attend meetings from Vitaflo.Katrin Õunap declares that she has no conflict of interest.Pat A. Portnoi received grants from Nutricia and Vitaflo to attend conferences, meetings or to give lectures in the past 5 years.Nancy L. Potter declares that she has no conflict of interest.M. Estela Rubio-Gozalbo declares that she has no conflict of interest.Jessica B. Spencer declares that she has no conflict of interest.Inge Timmers declares that she has no conflict of interest.Eileen P. Treacy declares that she has no conflict of interest.Sandra C. Van Calcar declares that she has no conflict of interest.Susan E. Waisbren declares that she has no conflict of interest.Lindsey Welling declares that she has no conflict of interest.Details of fundingThe 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.

References

1. Calderon FRO, Nelson L, Dobrowolski P, et al. Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene. J Inherit Metab Dis. 2007;30:818. doi: 10.1007/s10545-007-0461-x. - DOI - PubMed

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

Affiliations

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

Authors

Affiliations

Abstract

Conflict of interest statement

References

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LinkOut - more resources

Full Text Sources

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