Recommendations for the management of galactosaemia Commentary

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Abstract
There is controversy about certain aspects involving the detection, outcome, and management of galactosaemia.1 2The relative rarity of the disorder and lack of prospective studies have made it difficult for paediatricians to base their advice to parents and their management of patients on good clinical evidence. The UK Galactosaemia Steering Group was established in 1994 to address these problems. It is now maintained by the research division of the Royal College of Paediatrics and Child Health. The primary aim of this steering group is to set up a national register of all cases of galactosaemia and to obtain detailed prospective longitudinal data. Having established this register it has become apparent that the management of galactosaemia varies widely. Patients are seen in many centres within the UK, both specialist and non-specialist. We believe it would be helpful for clinicians involved in their care to have recommendations for management based on currently available information. The recommendations represent a consensus view of the steering group. Those for the treatment of hypergonadotrophic hypogonadism in galactosaemia have been agreed with the British Society for Paediatric Endocrinology and Diabetes. Classic galactosaemia is caused by an inherited deficiency of the enzyme galactose-1-phosphate uridyl transferase.3Incidence in the UK is approximately 1:45 000 live births; most patients are either homozygous or heterozygous for the Q188R mutation.4-6 Classic galactosaemia most often presents in the neonatal period with life threatening illness. Excluding galactose from the diet combined with supportive care is essential to treat this acute illness and prevent further deterioration. Galactose restriction throughout life is necessary to stop recurrence of severe toxicity. However, early diagnosis and appropriate dietary treatment does not prevent long term complications including cognitive dysfunction, which may worsen with age, and gonadal dysfunction in female patients.7 Recent evidence suggests that there is …