IMD WATCH: GALACTOSAEMIA
NEW GALACTOSAEMIA GUIDELINES: WHAT DO THEY MEAN FOR DIETITIANS? Pat Portnoi Dietitian to the Galactosaemia Support Group (GSG) Pat has worked for the GSG for 19 years. For many years, Pat and Anita have undertaken research on cheese in galactosaemia and have recently been involved in developing the new international guidelines on galactosaemia.
Anita MacDonald Consultant Dietitian in Inherited Metabolic Disorders, Birmingham Children’s Hospital Anita has had 38 years of clinical experience in Paediatric Dietetics, particularly Inherited Metabolic Disorders. She is a highly respected researcher, writer and teacher in IMD Dietetics. Anita is particularly interested in galactosaemia and PKU.
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Galactosaemia is an inherited inborn error of carbohydrate metabolism, affecting one in 44,000 people in the UK. It is more common in the Irish and traveller populations. Although specialist dietitians in metabolic centres are in the best position to take care of their dietary needs, many patients with galactosaemia receive their routine care at district general hospitals. Galactosaemia is caused by a profound deficiency of galactose-1-phosphateuridyltransferase, which leads to the accumulation of various metabolites. Fundamentally, it is managed by a lifelong, very low lactose/galactose diet. Although the disorder has been treated for 60 years, patient outcome is variable, but with many having cognitive, executive and neurological dysfunction. There is no apparent relationship between severity of dietary restriction and patient outcome.1 The actual cause of long-term clinical problems is not established. In 1999, the UK Galactosaemia Steering Group published national guidelines for the UK, but there was no formal assessment of the evidence.2 No other guidelines had been published at that time. In 2012, a review of current practice of management showed that treatment practice varied widely.1 A dietetic review of the severity of galactose restriction in adults in Europe, Australia and New Zealand3 also indicated diverse clinical practice. HOW THE GALACTOSAEMIA GUIDELINES WERE DEVELOPED
To provide patients around the world with the same state-of-the-art care, evidence-based guidelines were developed by the Galactosaemia Network (GalNet), and 23 international experts in their own fields from Europe and the USA working together. Ten different fields of interest in classical galactosaemia were identified:
www.NHDmag.com August/September 2017 - Issue 127
1) Diagnostics 2) Biochemical follow-up 3) Dietary management 4) Cognitive development 5) Speech and language development 6) Neurological complications 7) Psychosocial development and mental health 8) Endocrinology and fertility 9) Bone health 10) Ophthalmological complications Key questions were suggested for each area of interest. Formalised literature searches were undertaken for each key question and selected published studies were evaluated by each subgroup. Consensus was reached within each group and recommendations developed accordingly. The body of evidence for each recommendation was ‘low to very low’ because of the rarity of the disorder and difficulties in performing randomised controlled trials when patient numbers are limited. Accordingly, each recommendation was assigned a strength of recommendation. Only if highly consistent results were found across multiple studies was it considered strong (++). Discretionary recommendation (+) was for those recommendations based on ‘expert opinion’ or with a low body of evidence. RECOMMENDATIONS
Forty recommendations were developed in total and recommendations 4 to 7 are of particular interest to dietitians. The