A holistic approach to the patients/Families with inborn errors of metabolism
| Oct 02, 2020
About this article
Article Category: Review paper
Published Online: Oct 02, 2020
Page range: 65 - 72
DOI: https://doi.org/10.34763/jmotherandchild.20202402si.2004.000010
Keywords
© 2020 Peter Burgard, published by Sciendo
This work is licensed under the Creative Commons Attribution 4.0 International License.
Figure 1
Ten elements (subsystems) of a holistic approach to IEM
| Element/subsystem | Diagnosis | Treatment | Care | |
|---|---|---|---|---|
| Genes |
Diet |
Metabolic monitoring |
||
| Early, late onset subtypes Severity | What, how much, how long | Where, what | ||
| Understanding the condition | Application of treatment recommenda- tions in everyday life (compliance, adherence) | Coping with the condition in everyday life |
||
| Understanding the condition Genetic counseling | Application of treatment recommendations in everyday life (compliance, adherence) | Technical, emotional, social, informational support |
||
| Biochemistry | Pediatric and adult metabolic specialists |
Clinical medicine |
||
| Role models for coping and outcomes at different ages | Exchange of tips and tricks for everyday management | Social, informative, political support, Empowerment by peers | ||
| Laboratory methods | Monitoring systems | Aids and tools | ||
| Etiology Pathomechanism Basic research | New treatments |
Guidelines and standards |
||
| Newborn screening programs Whole exome/genome sequencing | Regulations for reimbursement | Social legislation |
||
| Cost-effectiveness | Cost-effectiveness |
Cost-effectiveness | ||
| Innovations of diagnostic technology | New treatments and products | Written and electronic information |