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Updated: Apr 14, 2026

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
Published on: June 25, 2010
[Inborn errors of metabolism: transition from childhood to adulthood]
Inborn errors of metabolism (IEM) management is shifting to adult care as improved therapies allow children to survive longer. Adult IEM patients require specialized care adapted for adult life stages and potential long-term complications.
Area of Science:
- Biochemistry
- Genetics
- Pediatric Medicine
Context:
- Inborn errors of metabolism (IEM) are genetic disorders affecting metabolic pathways.
- Therapeutic advancements have improved childhood survival rates for IEM patients.
- A growing population of adult IEM survivors necessitates specialized adult care.
Purpose:
- To highlight the transition of care for Inborn errors of metabolism (IEM) patients from pediatric to adult services.
- To address the limited knowledge and specific needs of adult patients with IEM.
- To adapt pediatric guidelines for adult IEM management, considering adult life stages.
Summary:
- Inborn errors of metabolism (IEM) encompass genetic defects in enzyme function, categorized into intoxication, energy, or organelle-related defects.
- Improved therapies have enhanced prognosis for children with IEM, leading to an increasing number of adult survivors.
- Transitioning these patients to adult care requires adapting pediatric protocols for adult life stages, including pregnancy and aging.
Impact:
- Facilitates the development of specialized adult care models for Inborn errors of metabolism (IEM).
- Improves long-term health outcomes and quality of life for adult IEM patients.
- Advances the understanding of chronic disease management in rare genetic metabolic disorders.
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