Training activity information
Details
Write a plan of investigation for one 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.
Reflective practice guidance
The guidance below is provided to support reflection at different time points, providing you with questions to aid you to reflect for this training activity. They are provided for guidance and should not be considered as a mandatory checklist. Trainees should not be expected to provide answers to each of the guidance questions listed.
Before action
- Which three categories of IEM from the list are you planning to focus on? Why have you chosen these specific categories?
- For each of your chosen IEM categories, what are some examples of specific disorders within that category?
- What are the typical clinical features that might suggest a disorder within each of your chosen categories (e.g., developmental delay, organomegaly, neurological involvement)?
- What are the initial screening tests and subsequent confirmatory tests commonly used for these categories of IEM? Consider both first-line biochemical tests available in a non-specialist lab and more specialised tests performed in reference centres.
- What sample types are typically required for the investigation of these disorders (e.g., blood, urine, CSF, fibroblasts)?
- What is the role of the clinical biochemistry laboratory in the diagnostic pathway for these disorders, and when is referral to a specialist metabolic centre necessary?
- How will this activity broaden your understanding of the diverse range of IEMs and their investigation?
- What insights do you hope to gain into the strategic approach to investigating IEMs, often starting with non-specific screening tests and progressing to more targeted analyses?
- How will this exercise improve your ability to think systematically about the differential diagnosis of IEMs based on clinical and initial laboratory findings?
- Discuss the training activity with your training officer or a clinical biochemist with expertise in IEM to gain an overview of the investigative approaches for your chosen categories.
- Review relevant resources, online databases (e.g., OMIM), and diagnostic algorithms for IEMs.
- Consider common clinical scenarios or ‘red flags’ that might prompt investigation for each of your chosen IEM categories.
- Understand the limitations of a non-specialist laboratory and the importance of knowing when and how to refer samples and patients for specialist metabolic investigations.
In action
- How are you approaching the task of writing the plans of investigation for each chosen category of IEM? What are the key principles guiding your selection of tests?
- What decisions are you making as you identify the initial screening tests and the more specific confirmatory analyses relevant to each category?
- Are you readily recalling the characteristic biochemical abnormalities for each disorder category or are you frequently referring to resources? Are you considering the different sample types required?
- How effective are your actions in developing logical and informative plans of investigation for these IEM categories?
- Are you finding it difficult to differentiate between the appropriate tests for different disorders within a category? Are you considering the limitations of certain assays?
- Are you gaining a deeper understanding of the diagnostic approaches for different groups of inborn errors of metabolism?
- Are you applying your knowledge of metabolic pathways and the biochemical consequences of defects in these pathways?
- Are there alternative testing strategies you could be considering for these categories of IEM?
- Are you confident in the investigation plans you are proposing, or do you require further guidance on the appropriate specialist metabolic investigations?
On action
- Which three categories of IEM did you choose? What were the key biochemical tests and other investigations you included in your plan for each category? Did you consider the typical presenting features and underlying metabolic pathways for each category? What were the similarities and differences in the investigative approaches for the different categories? Did you consider the role of first-line screening tests versus more specialised confirmatory analyses?
- Did you enhance your understanding of the diagnostic strategies for different categories of inborn errors of metabolism? Did you improve your ability to select appropriate biochemical investigations based on the broad characteristics of these disorders? Did you gain a better appreciation for the complexity of investigating IEM? Did you find it difficult to identify key screening tests or differentiate between the diagnostic approaches for related disorders? Were you able to construct logical and informative investigation plans for each category? Did you refine your choice of tests or the order of investigation as you considered the specific characteristics of each IEM category?
- What areas for continued development have been identified as a result of this activity? Do you need to deepen your knowledge of the specific biochemical markers or diagnostic pathways for particular IEM categories? How will you approach future requests for investigation strategies for suspected inborn errors of metabolism? Identify the actions / ‘next steps’ you will now take to support the assimilation of what you have learned. Will you review relevant textbooks or online resources on IEM investigation, discuss your plans with a specialist in metabolic disorders, or explore case studies? What support or resources might you need to further develop in the areas identified through this reflection? Would access to summary tables of key investigations for different IEM categories be helpful?
Beyond action
- Review your original plans of investigation for the chosen categories of Inborn Errors of Metabolism (IEM). How does your current understanding of these disorders and their investigation differ?
- Consider the advancements in diagnostic technologies and testing strategies for these IEM categories that have occurred since you wrote the plans. Would you include different tests now?
- Reflect on any cases you have encountered involving these categories of IEM. How did the actual diagnostic process align with your initial plans?
- Discuss your original plans with colleagues who have experience in investigating IEM. What are their perspectives on the approaches you outlined?
- How has your knowledge of the different categories of IEM and the principles of their biochemical investigation expanded since completing this DTA?
- Have you applied your skills in devising investigative plans to other complex biochemical scenarios?
- How has this experience enhanced your ability to identify situations where specialist metabolic testing might be required?
- What areas within the investigation of IEM do you feel you still need to develop further? What specific actions will you take to enhance your knowledge in these areas?
- How will the ability to formulate investigation plans for complex disorders like IEM contribute to your role in multidisciplinary team discussions and future service development?
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. |