Training activity information
Details
Write a plan of investigation for three of the following categories of IEM:
- Peroxisomal Disorders
- MPS Disorders
- Lysosomal storage disorders (other than MPS)
- Sterols e.g. Smith Lemli Opitz
- Mitochondrial
- Purines/pyrimidines
Type
Developmental training activity (DTA)
Evidence requirements
Evidence the activity has been undertaken by the trainee​.
Reflection on the activity at one or more time points after the event including learning from the activity and/or areas of the trainees practice for development.
An action plan to implement learning and/or to address skills or knowledge gaps identified.
Considerations
- Investigation of developmental delay and dysmorphism
- Non-specific tests to support diagnosis
- Clinical presentation, mechanism of disease, typical symptoms, and variant forms
- Local and national guidelines
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 3 |
Outcome
Identify the appropriate specialist testing for the major categories of inborn errors of metabolism. |
| # 4 |
Outcome
Apply the appropriate testing strategy for paediatric clinical scenarios. |
| # 7 |
Outcome
Select and perform the appropriate investigative testing strategy for inborn errors, including those relevant to developmental delay and dysmorphism. |
| # 8 |
Outcome
Apply the investigation of inborn errors of metabolism to adults. |