International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up
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,...
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| Veröffentlicht in: | Journal of inherited metabolic disease 2017-03, Vol.40 (2), p.171-176 |
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| container_title | Journal of inherited metabolic disease |
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| creator | Welling, Lindsey Bernstein, Laurie E. Berry, Gerard T. Burlina, Alberto B. Eyskens, François Gautschi, Matthias Grünewald, Stephanie Gubbels, Cynthia S. Knerr, Ina Labrune, Philippe van der Lee, Johanna H. MacDonald, Anita Murphy, Elaine Portnoi, Pat A. Õunap, Katrin Potter, Nancy L. Rubio-Gozalbo, M. Estela Spencer, Jessica B. Timmers, Inge Treacy, Eileen P. Van Calcar, Sandra C. Waisbren, Susan E. Bosch, Annet M. |
| description | 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. |
| doi_str_mv | 10.1007/s10545-016-9990-5 |
| format | Article |
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Estela ; Spencer, Jessica B. ; Timmers, Inge ; Treacy, Eileen P. ; Van Calcar, Sandra C. ; Waisbren, Susan E. ; Bosch, Annet M.</creator><creatorcontrib>Welling, Lindsey ; Bernstein, Laurie E. ; Berry, Gerard T. ; Burlina, Alberto B. ; Eyskens, François ; Gautschi, Matthias ; Grünewald, Stephanie ; Gubbels, Cynthia S. ; Knerr, Ina ; Labrune, Philippe ; van der Lee, Johanna H. ; MacDonald, Anita ; Murphy, Elaine ; Portnoi, Pat A. ; Õunap, Katrin ; Potter, Nancy L. ; Rubio-Gozalbo, M. Estela ; Spencer, Jessica B. ; Timmers, Inge ; Treacy, Eileen P. ; Van Calcar, Sandra C. ; Waisbren, Susan E. ; Bosch, Annet M. ; Galactosemia Network (GalNet) ; On behalf of the Galactosemia Network (GalNet)</creatorcontrib><description>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.</description><identifier>ISSN: 0141-8955</identifier><identifier>EISSN: 1573-2665</identifier><identifier>DOI: 10.1007/s10545-016-9990-5</identifier><identifier>PMID: 27858262</identifier><language>eng</language><publisher>Dordrecht: Springer Netherlands</publisher><subject>Biochemistry ; Evidence-Based Medicine - methods ; Follow-Up Studies ; Galactose - metabolism ; Galactosemias - diagnosis ; Galactosemias - drug therapy ; Galactosemias - metabolism ; Guidelines ; Human Genetics ; Humans ; Internal Medicine ; Medicine ; Medicine & Public Health ; Metabolic Diseases ; Metabolism, Inborn Errors - diagnosis ; Metabolism, Inborn Errors - drug therapy ; Pediatrics</subject><ispartof>Journal of inherited metabolic disease, 2017-03, Vol.40 (2), p.171-176</ispartof><rights>The Author(s) 2016</rights><rights>2017 The Author(s)</rights><rights>Journal of Inherited Metabolic Disease is a copyright of Springer, 2017.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c5181-5109bc8b4d7586ecbbdd8c4fbf7cd9bc8ee9354f35f8beac73fb97d9aa523a4e3</citedby><cites>FETCH-LOGICAL-c5181-5109bc8b4d7586ecbbdd8c4fbf7cd9bc8ee9354f35f8beac73fb97d9aa523a4e3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s10545-016-9990-5$$EPDF$$P50$$Gspringer$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s10545-016-9990-5$$EHTML$$P50$$Gspringer$$Hfree_for_read</linktohtml><link.rule.ids>230,314,777,781,882,1412,27905,27906,41469,42538,45555,45556,51300</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27858262$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Welling, Lindsey</creatorcontrib><creatorcontrib>Bernstein, Laurie E.</creatorcontrib><creatorcontrib>Berry, Gerard T.</creatorcontrib><creatorcontrib>Burlina, Alberto B.</creatorcontrib><creatorcontrib>Eyskens, François</creatorcontrib><creatorcontrib>Gautschi, Matthias</creatorcontrib><creatorcontrib>Grünewald, Stephanie</creatorcontrib><creatorcontrib>Gubbels, Cynthia S.</creatorcontrib><creatorcontrib>Knerr, Ina</creatorcontrib><creatorcontrib>Labrune, Philippe</creatorcontrib><creatorcontrib>van der Lee, Johanna H.</creatorcontrib><creatorcontrib>MacDonald, Anita</creatorcontrib><creatorcontrib>Murphy, Elaine</creatorcontrib><creatorcontrib>Portnoi, Pat A.</creatorcontrib><creatorcontrib>Õunap, Katrin</creatorcontrib><creatorcontrib>Potter, Nancy L.</creatorcontrib><creatorcontrib>Rubio-Gozalbo, M. Estela</creatorcontrib><creatorcontrib>Spencer, Jessica B.</creatorcontrib><creatorcontrib>Timmers, Inge</creatorcontrib><creatorcontrib>Treacy, Eileen P.</creatorcontrib><creatorcontrib>Van Calcar, Sandra C.</creatorcontrib><creatorcontrib>Waisbren, Susan E.</creatorcontrib><creatorcontrib>Bosch, Annet M.</creatorcontrib><creatorcontrib>Galactosemia Network (GalNet)</creatorcontrib><creatorcontrib>On behalf of the Galactosemia Network (GalNet)</creatorcontrib><title>International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up</title><title>Journal of inherited metabolic disease</title><addtitle>J Inherit Metab Dis</addtitle><addtitle>J Inherit Metab Dis</addtitle><description>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. 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Estela</au><au>Spencer, Jessica B.</au><au>Timmers, Inge</au><au>Treacy, Eileen P.</au><au>Van Calcar, Sandra C.</au><au>Waisbren, Susan E.</au><au>Bosch, Annet M.</au><aucorp>Galactosemia Network (GalNet)</aucorp><aucorp>On behalf of the Galactosemia Network (GalNet)</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up</atitle><jtitle>Journal of inherited metabolic disease</jtitle><stitle>J Inherit Metab Dis</stitle><addtitle>J Inherit Metab Dis</addtitle><date>2017-03</date><risdate>2017</risdate><volume>40</volume><issue>2</issue><spage>171</spage><epage>176</epage><pages>171-176</pages><issn>0141-8955</issn><eissn>1573-2665</eissn><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. 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| identifier | ISSN: 0141-8955 |
| ispartof | Journal of inherited metabolic disease, 2017-03, Vol.40 (2), p.171-176 |
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| language | eng |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete; SpringerLink Journals - AutoHoldings |
| subjects | Biochemistry Evidence-Based Medicine - methods Follow-Up Studies Galactose - metabolism Galactosemias - diagnosis Galactosemias - drug therapy Galactosemias - metabolism Guidelines Human Genetics Humans Internal Medicine Medicine Medicine & Public Health Metabolic Diseases Metabolism, Inborn Errors - diagnosis Metabolism, Inborn Errors - drug therapy Pediatrics |
| title | International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up |
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