Abstract
Improvements in screening programmes, diagnostic tests and therapeutic interventions have all led to increasing numbers of children with inherited metabolic diseases surviving through childhood into adolescence and adulthood. These individuals are often able to integrate into society, but many have complex, multisystem problems that require ongoing care. Understanding of the long-term outcome of these disorders is scanty. Awareness of these conditions within the adult medical community is sadly limited and much of the good work of the paediatricians potentially could go to waste. This is often prevented by paediatricians remaining involved in patient care into the third decade and beyond. Appropriate resources to deal with the transition from the children's services to the adult sector are necessary, and appropriately trained medical and dietetic personnel are required to run these services. An adult inborn errors service needs to have close links with a feeding paediatric unit, as well as to integrate with other adult medical and surgical specialties, and to be supported by metabolic biochemical and molecular laboratories. This paper discusses the issues around this growing problem based upon experience gained working within a single centre dedicated to the care of adults and adolescents with inborn errors of metabolism.
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Lee, P.J. Growing older: The adult metabolic clinic. J Inherit Metab Dis 25, 252–260 (2002). https://doi.org/10.1023/A:1015602601091
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DOI: https://doi.org/10.1023/A:1015602601091