An approach to recognising and identifying metabolic presentations in the paediatric Irish Traveller population.
Consanguinity
Inborn errors of metabolism
Inherited metabolic disorders
Irish Travellers
Recessive disease
Journal
European journal of pediatrics
ISSN: 1432-1076
Titre abrégé: Eur J Pediatr
Pays: Germany
ID NLM: 7603873
Informations de publication
Date de publication:
Jan 2023
Jan 2023
Historique:
received:
10
07
2022
accepted:
05
11
2022
revised:
25
10
2022
pubmed:
15
11
2022
medline:
12
1
2023
entrez:
14
11
2022
Statut:
ppublish
Résumé
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. 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. • 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. • This paper is a comprehensive review of all known inherited metabolic conditions encountered in the Irish Traveller population.
Identifiants
pubmed: 36374302
doi: 10.1007/s00431-022-04697-0
pii: 10.1007/s00431-022-04697-0
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
31-40Informations de copyright
© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
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