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

Details

Perform two analyses for any one of the following tests and interpret the results:

• Amino acids (quantitative)
• Galactosaemia screen (Beutler)
• Acylcarnitine

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

• What specific test(s) from the list are you planning to perform? Why have you chosen these? What do you hope to learn specifically about the chosen analysis?
• What are the principles behind the chosen analytical method(s) (e.g., LC-MS/MS for amino acids and acylcarnitines, enzyme assay for Beutler test)?
• What are the relevant SOPs for performing these analyses in your laboratory, including quality control procedures?
• What are the typical reference ranges for these analytes in paediatric samples, and how might they vary with age?
• What are some common IEMs detected by these tests (e.g., PKU, MSUD for amino acids; galactosaemia; MCADD, VLCADD for acylcarnitines)? What are the typical abnormal results that would indicate these conditions?
• How do you interpret quality control data for these assays?
• Review the relevant SOPs and any theoretical background material on the chosen analyses and associated IEMs.
• Consider potential challenges you might encounter, such as instrument malfunctions, unexpected quality control results, or difficulty interpreting complex data. Think about how you might address these.
• Ensure you understand the importance of performing the analyses to the required standard and the implications of inaccurate results in the context of paediatric diagnoses.

In action

• How are you approaching the chosen analyses? Why are you following this particular method?
• What decisions are you making as you perform the analyses and interpret the results? This might include choices about quality control, troubleshooting instrument issues, or determining the significance of the results.
• Are you comfortable with the practical steps of the analysis, or are you concentrating on each step? Is the interpretation of the results familiar or new?
• How effective are your actions in performing the analyses accurately and obtaining reliable results?
• Are there any technical difficulties with the assay? Are you encountering any unexpected observations? Is the interpretation of the results proving complex?
• Are you gaining a better understanding of the analytical process or the clinical significance of the results?
• Are there alternative approaches you could be considering if you encounter problems with the analysis? For example, are there alternative reagents or troubleshooting steps you could try?

On action

• Which of the two analyses did you perform? What were the main steps involved in the chosen analysis? What were the results you obtained for the two analyses? What were your initial interpretations of these results? Were there any notable differences or similarities between the two analyses you performed? Did you observe any unexpected findings or challenges during the analytical process?
• What skills or knowledge did you develop or improve through this activity? Did you gain practical experience in performing the chosen analytical technique? Did you improve your understanding of the principles behind the assay? Did you enhance your ability to interpret the results of this specific test in a clinical context?
• Were there any unexpected challenges or successes during the activity? What did you learn from these? Did you encounter any technical difficulties or achieve particularly clear and consistent results? Did you adjust your technique or approach based on real-time observations?
• What areas for continued development have been identified as a result of this activity? Do you need to refine your technical skills in performing the assay or deepen your understanding of the clinical significance of the results? Identify the actions / ‘next steps’ you will now take to support the assimilation of what you have learned. Will you review the relevant standard operating procedures, discuss the clinical implications of different results with colleagues, or seek further practical experience? Do you require further training on the instrument used or access to case studies for interpretation practice?

Beyond action

• Compare the technical aspects of the two analyses you performed with other laboratory procedures you are now familiar with. What practical skills have you further developed since this training activity?
• Revisit your initial interpretations. Have you encountered cases since that have given you a different perspective on interpreting similar results?
• Discuss with colleagues any cases involving amino acids, galactosaemia, or acylcarnitines that you have encountered. Did their insights change how you view your original interpretations?
• How has your understanding of the analytical principles and potential interferences in amino acid analysis, galactosaemia screening, or acylcarnitine profiling deepened since this training activity?
• Have you applied your interpretive skills from this activity to reviewing control data or troubleshooting analytical issues for these tests?
• How has this experience informed your approach to ensuring the quality and accuracy of these analyses in your current work?
• What skills in analytical technique and result interpretation did you develop that may support you in more advanced or specialist areas of paediatric biochemistry?
• What specific actions have you taken since the original experience in order to address any gaps in your practice that you previously identified? 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.