Rare metabolic diseases among the Irish travellers: results from the All Ireland Traveller Health Study census and birth cohort (2007-2011)

Noor Aman Hamid, Cecily Kelleher, Catherine McGorrian, Leslie Daly, Patricia Fitzpatrick

Abstract


Irish Travellers are a minority population group on the island of Ireland, in whom it has been documented previously that some rare inborn metabolic diseases are more prevalent. However, these were mostly based on population estimates, rather than accurate denominator data. This study aimed to document the prevalence of these rare metabolic diseases, employing data from the All Ireland Health Study census and subsequent birth cohort study (2007-2011). The prevalences for Hurler disease, Phenyketonuria, Galactosaemia and Brittle Bone Disease were 1.3, 1.3, 2.6 and 1.9 per 1,000 Traveller children respectively.  Other recorded diseases were Mucolipidosis type II, Marfan’s syndrome, Charcot-Marie-Tooth, Phenyketonuria and Byler’s Disease. These, however, may be an under-estimated numbers and also highlights the limitations in rare diseases epidemiology. There is a limited newborn screening service in the Republic of Ireland; given the higher prevalence of these metabolic diseases among the Travellers, a Traveller-specific prevention strategy should be considered. Services should also be sensitive to the needs of the population.

Keywords


rare diseases epidemiology, metabolic diseases, Irish travellers

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References


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