Paediatric Biochemistry and Inborn Errors of Metabolism —
Training activity: 4

Details

Perform the sample preparation for and annotate five organic acid profiles and interpret the results

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

• Local and national training guidelines, including standards and pathways
• Method selection, including pre-analytical issues, assay advantages and limitations, quality parameters, and interferences
• Equipment calibration and maintenance
• Quality control; EQA and IQC
• Clinical utility
• National and international guidelines
• Role of the duty biochemist

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

• What are the standard operating procedures (SOPs) for sample preparation for organic acid profiles in your laboratory?
• What information should be included when annotating an organic acid profile (e.g., patient details, date of collection, clinical information)?
• What are the common analytical techniques used for organic acid analysis (e.g., GC-MS)? Do you understand the basic principles of these techniques?
• Are you familiar with examples of abnormal organic acid profiles and the IEMs they might suggest? What resources can you use to aid your interpretation?
• Consider possible challenges you might face during the activity, such as difficult sample matrices, complex chromatograms, or ambiguous results. Think about how you might handle these challenges and who you can ask for help.
• Review relevant literature, SOPs, and any available case studies related to organic acid profiling and common IEMs.

In action

• How are you approaching the sample preparation and annotation? Why are you doing it this way?
• What decisions are you making as you prepare the samples, annotate the profiles, and begin to interpret the results?
• Are you confident in identifying specific peaks or are you frequently referring to reference materials?
• How effective are your actions in preparing the samples and annotating the organic acid profiles accurately?
• Are there any steps in the sample preparation that are proving difficult? Are you finding the annotation process straightforward? Is the interpretation of the profiles challenging?
• Are you noticing any patterns or potential pitfalls?
• Are there alternative approaches you could be considering for any part of the process? For example, are there different ways to annotate the profiles that might be more efficient?
• Do you require any further information to enable accurate interpretation? For example clinical details, patient’s age, sample collection time etc.

On action

• What were the main steps involved in the sample preparation? What were the key features you noted during the annotation of the five organic acid profiles? What were the initial interpretations of the results?
• Were there any particular challenges encountered during the sample preparation or annotation process?
• What were the noticeable characteristics of the different organic acid profiles you reviewed? Did any results stand out as particularly normal or abnormal?
• Did you gain a better understanding of the technical aspects of sample preparation for organic acid analysis?
• Did you improve your ability to annotate chromatographic data? Did you enhance your skills in interpreting organic acid profiles in the context of potential metabolic disorders?
• Did you encounter any technical issues you had to troubleshoot? Were there any aspects of the interpretation that were more straightforward than expected? Did any adjustments you made during the process improve the outcome?
• What areas for continued development have been identified as a result of this activity? Do you need to focus on specific aspects of sample preparation, annotation techniques, or the interpretation of particular patterns in organic acid profiles?
• How will you approach future organic acid analyses based on this experience? Identify the actions you will now take. Will you review relevant literature, discuss challenging cases with colleagues, or seek further training in specific areas? What support or resources might you need to further develop in the areas identified through this reflection? Do you require access to specific reference materials, training courses, or mentorship?

Beyond action

• Compare your approach to sample preparation and annotation with methods used in other analyses you have performed. What observable behaviours and practices have you assimilated into your own practice since this training activity?
• Revisit your original annotations and interpretations. Have your views on any of the profiles changed as a result of analysing other cases or further study?
• Engage in discussions with peers or colleagues about challenging organic acid profiles you have encountered since this activity. Has their perspective changed your understanding of the original profiles?
• How has your understanding of sample preparation techniques for complex analyses like organic acid profiles evolved since this training activity?
• Have you applied the skills gained in annotating and interpreting these profiles to other areas of your work? For example, in reviewing results from External Quality Assurance (EQA) schemes?
• How has this experience contributed to your ability to identify potential pre-analytical or analytical issues in similar tests?
• Revisit areas for continued development you identified in your understanding of organic acid analysis as a result of this reflection. What clear actions have you taken to address these? What further experience or training do you still require?

Relevant learning outcomes

#	Outcome
# 2	Outcome Employ knowledge of the technical issues associated with paediatric samples.
# 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.
# 6	Outcome Select and perform the appropriate investigative strategy for the common, acute presenting paediatric disorders.
# 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.