Literature DB >> 25915985

[Inborn errors of metabolism: transition from childhood to adulthood].

C Tran, F Barbey, N Pitteloud, J Philippe, I Kern, L Bonafé.   

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).

Entities:  

Mesh:

Year:  2015        PMID: 25915985

Source DB:  PubMed          Journal:  Rev Med Suisse        ISSN: 1660-9379


  1 in total

1.  Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics.

Authors:  Karim Gariani; Marina Nascimento; Andrea Superti-Furga; Christel Tran
Journal:  Orphanet J Rare Dis       Date:  2020-08-18       Impact factor: 4.123

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.