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Scientific article
French

Erreurs innées du métabolisme: transition enfant-adulte

Contributors

Tran, Christel; Barbey, Frederic; Pitteloud, Nelly; Philippe, Jacques; Kern, Ilse; Bonafé, L

Published in

Revue médicale suisse, vol. 11, no. 462, p. 445-449

Publication date

2015

Abstract

Inborn errors of metabolism (IEM) are due to mutations of genes coding for enzymes of intermediary metabolism and are classified into 3 broad categories: 1) intoxication, 2) energy defect and 3) cellular organelles synthesis or catabolism defect. Improvements of therapy over these last 20 years has improved prognosis of children with IEM. These children grow up and should have their transition to specialized adult care. Adult patients with IEM are a relatively new phenomenon with currently only limited knowledge. Extrapolated pediatric guidelines are applied to the adult population taking into account adult life stages (social independence, pregnancy, aging process and potential long-term complications).

Keywords

  • Adolescent
  • Humans
  • Metabolism, Inborn Errors/therapy
  • Transition to Adult Care
  • Young Adult

UNIGE affiliation entities

UNIGE research groups

Citation (ISO format)

TRAN, Christel et al. Erreurs innées du métabolisme: transition enfant-adulte. In: Revue médicale suisse, 2015, vol. 11, n° 462, p. 445–449.

Main files (1)

Article (Published version)

Identifiers

Journal ISSN

1660-9379
630views
2downloads

Technical informations

Creation

08/09/2015 13:49:00

First validation

08/09/2015 13:49:00

Update

14/03/2023 23:42:27

Status update

14/03/2023 23:42:27

Last indexation

31/10/2024 01:33:08
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