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.
Highlights
Classical galactosemia (CG) is an inborn error of galactose metabolism
Recommendation #1 (+) Clinicians should confirm the diagnosis of CG by the measurement of GALT enzyme activity in red blood cells, and/or GALT gene analysis
It is enough to confirm the diagnosis by genetic analysis only, if the detected variations are reported as disease causing in genetic variation databases (Calderon et al 2007; http://www. arup.utah.edu/database/galt/galt_welcome.php) and the biological parents each carry one variation
Summary
Recommendation #4 (++) Clinicians should immediately commence a galactose-restricted diet (e.g., soy-based, casein hydrolysate or elemental formula) if classical galactosemia is suspected in an infant, without waiting for confirmation of the diagnosis. Recommendation #5 (expert opinion, +) We recommend treating patients with CG with a life-long galactose-restricted diet that only eliminates sources of lactose and galactose from dairy products, but permits galactose from non-milk sources that contribute minimal dietary galactose. Within this definition we accept that small amounts of galactose are present in specific mature cheeses and caseinates. 23 Division of Genetics and Genomics, Boston Children’s Hospital and Harvard Medical School, Boston, MA, USA. Recommendation #8 (++) In the first year of life clinicians should measure red blood cell Gal-1-P levels at diagnosis, and after 3 and 9 months of dietary galactose restriction. Neuropsychological Test Automated Battery (CANTAB), the Amsterdam Neuropsychological Tasks program (ANT) or a similar measure, with follow-up, as needed
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