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Review
. 2023 Jan;182(1):31-40.
doi: 10.1007/s00431-022-04697-0. Epub 2022 Nov 14.

An approach to recognising and identifying metabolic presentations in the paediatric Irish Traveller population

E B Forman  1   2 , S A Lynch  3   4 , I Knerr  5   6   4 , A Monavari  5   6   4 , J Hughes  5   6 , R Boruah  5   6 , A Green  3   4 , E Crushell  5   6   4
Affiliations
Review

An approach to recognising and identifying metabolic presentations in the paediatric Irish Traveller population

E B Forman et al. Eur J Pediatr. 2023 Jan.

Abstract

The Irish Traveller population are an endogamous, traditionally nomadic, Irish population. Irish Travellers practice consanguinity in the majority of marriages, thus resulting in a higher rate of rare autosomal recessive conditions within the population due to homozygous variants. Herein, we outline the clinical phenotypes associated with metabolic conditions seen in this population presenting in the neonatal period, infancy and childhood. Although Irish Travellers are traditionally based in Ireland and the UK, there are populations also living in mainland Europe and the USA. While there is generally an understanding amongst Irish paediatricians of the recessive conditions seen with this population in Ireland, they may be less commonly encountered abroad. It is important to consider a non-genetic aetiology alongside any consideration for a metabolic disorder.

Conclusion: This paper acts as a comprehensive review of the metabolic conditions seen and provides a guide for the investigation of an Irish Traveller child with a suspected metabolic condition.

What is known: • The Irish Traveller population are an endogenous population. • There are higher rates of inherited metabolic conditions in this population compared to the general population in Ireland.

What is new: • This paper is a comprehensive review of all known inherited metabolic conditions encountered in the Irish Traveller population.

Keywords: Consanguinity; Inborn errors of metabolism; Inherited metabolic disorders; Irish Travellers; Recessive disease.

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References

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