Module information
Module details
- Title
- Paediatric Biochemistry and Inborn Errors of Metabolism
- Type
- Specialist
- Module code
- S-CB-S3
- Credits
- 10
- Phase
- 3
- Requirement
- Compulsory
Aim of this module
This module will provide trainees with an understanding of paediatric biochemistry and the disorders and conditions common to paediatrics. Trainees will appreciate the technical challenges of paediatric biochemistry including the differences in sample types, reference ranges and physiology and that children are not just “small adults”. Trainees will gain experience in the investigation of inborn errors of metabolism focusing on the more common, acute presenting disorders. Additionally, those relevant to the investigation of developmental delay and dysmorphism, and endocrine disorders relevant to the paediatric population.
This module will equip trainees with the skills and knowledge required to manage common clinical paediatric scenarios encountered in a non-specialist laboratory. The ability to interpret or advise on specialist metabolic assays is beyond the scope of this module and is not an intended outcome of this training.
Work-based content
Training activities
| # | Learning outcome | Training activity | Type | Action |
|---|---|---|---|---|
| # 1 | Learning outcome 1,2 |
Training activities
Participate under supervision in the receipt of paediatric samples |
Type ETA | Action View |
| # 2 | Learning outcome 2,3,4 |
Training activities
Perform analysis of:
|
Type ETA | Action View |
| # 3 | Learning outcome 3,4,6,7,8 |
Training activities
Perform under supervision point of care testing for ketones (ketometers/dipsticks) and glucose (glucometers) |
Type ETA | Action View |
| # 4 | Learning outcome 2,3,4,6,7,8 |
Training activities
Perform the sample preparation for and annotate five organic acid profiles and interpret the results |
Type DTA | Action View |
| # 5 | Learning outcome 2,3,4,6,7,8 |
Training activities
Perform two analyses for any one of the following tests and interpret the results:
|
Type DTA | Action View |
| # 6 | Learning outcome 3,4,8 |
Training activities
Draft a clinical report for an abnormal or diagnostic result of one of the following:
|
Type DTA | Action View |
| # 7 | Learning outcome 1,2,5 |
Training activities
Write a plan of investigation for the diagnosis of one of the following disorders:
|
Type DTA | Action View |
| # 8 | Learning outcome 3,4,7,8 |
Training activities
Write a plan of investigation for three of the following categories of IEM:
|
Type DTA | Action View |
| # 9 | Learning outcome 1,2,5 |
Training activities
Interpret the results of a paediatric dynamic function test, and draft a clinical report |
Type ETA | Action View |
| # 10 | Learning outcome 1,2,4,6 |
Training activities
Write a plan of investigation for two of the following in the context of a suspected inborn error:
|
Type ETA | Action View |
Assessments
Complete 2 Case-Based Discussions
Complete 2 DOPS or OCEs
Direct Observation of Practical Skills Titles
- Interpret the results an acylcarnitine profile.
- Carry out a galactosaemia screen (Beutler test), with supervision, and interpret the results.
- Aid with the preparation of specialist samples to be sent to a referral lab.
- Interpret an EQA return for a metabolic assay (ERNDIM scheme).
- Carry out the assay for GAG/creatinine ratio with supervision, and interpret the results.
Observed Clinical Event Titles
- Communicate with another healthcare professional the necessary testing strategy for the investigation of hyperammonaemia.
- Communicate with another healthcare professional the necessary testing strategy for the investigation of hypoglycaemia.
- Explain the procedure for a dynamic function test to the healthcare professional who will be carry out the procedure.
- Communicate to a healthcare professional the results of a metabolic test indicating that the patient has a specific inborn error of metabolism, including recommendations for further action/testing.
Learning outcomes
| # | Learning outcome |
|---|---|
| 1 | Explain the biochemical and clinical differences between adults and children. |
| 2 | Employ knowledge of the technical issues associated with paediatric samples. |
| 3 | Identify the appropriate specialist testing for the major categories of inborn errors of metabolism. |
| 4 | Apply the appropriate testing strategy for paediatric clinical scenarios. |
| 5 | Interpret results of investigations for paediatric endocrine disorders including disorders of sexual development. |
| 6 | Select and perform the appropriate investigative strategy for the common, acute presenting paediatric disorders. |
| 7 | Select and perform the appropriate investigative testing strategy for inborn errors, including those relevant to developmental delay and dysmorphism. |
| 8 | Apply the investigation of inborn errors of metabolism to adults. |
Clinical experiences
Clinical experiences help you to develop insight into your practice and a greater understanding of your specialty's impact on patient care. Clinical experiences should be included in your training plan and you may be asked to help organise your experiences. Reflections and observations from your experiences may help you to advance your practice and can be used to develop evidence to demonstrate your awareness and appreciation of your specialty.
Activities
- Observe a blood sample being taken from a baby/child to appreciate the patient and family experience of the process.
- Observe a CSF sample being taken to appreciate the patient and family experience of the process.
- Observe a CSF sample being taken.
- Attend a metabolic/IEM clinic (paediatric or adult) to appreciate the patient experience of their care.
- Attend a paediatric endocrine clinic to appreciate the patient experience of their care.
- Observe a dynamic function test being carried out to appreciate the patient experience of their care.
Academic content (MSc in Clinical Science)
Important information
The academic parts of this module will be detailed and communicated to you by your university. Please contact them if you have questions regarding this module and its assessments. The module titles in your MSc may not be exactly identical to the work-based modules shown in the e-portfolio. Your modules will be aligned, however, to ensure that your academic and work-based learning are complimentary.
Learning outcomes
On successful completion of this module the trainee will be able to:
- Evaluate the biochemical differences between adults and children.
- Critically evaluate the design, operation and performance of biochemical techniques used in paediatric biochemistry.
- Discuss the clinical and laboratory investigation of a neonate with developmental delay and/or dysmorphism.
- Evaluate the clinical and laboratory investigation of an infant presenting with: hypoglycaemia, hyperammonaemia, jaundice, metabolic acidosis or sudden unexpected death in infancy.
- Apply integrative knowledge of appropriate investigative strategy for most common, acute presenting but potentially treatable disorders with emphasis on the organic acid, amino acid, urea cycle and fatty acid oxidation disorders.
- Discuss the clinical and laboratory investigation for paediatric endocrine disorders.
- Convey complex biochemical information to inform the multidisciplinary team about cause and consequences of conditions caused by genetic defects.
Indicative content
- Implications of paediatric patients on biochemical testing: sample size, effect of matrix on methods, and reference ranges.
- Biochemical problems of the newborn, including fluid balance, hypoglycaemia, jaundice, liver disease, calcium homeostasis, hypomagnesaemia and hyperammonaemia.
- Overview of modes of inheritance and mechanisms of disease in inborn errors of metabolism (e.g. substrate excess or substrate depletion, enzyme deficiency, and transporter defects).
- Pathophysiology and investigation of paediatric endocrine disorders, including disorders of sexual development.
- Principles of investigation of developmental delay.
- Principles of investigation of dysmorphism and an awareness of the relevant categories of IMD’s e.g. MPS disorders, peroxisomal disorders, and sterol disorders.
- Pathophysiology and diagnostic testing strategies of the organic acid, amino acid/urea cycle, and fatty acid oxidation disorders.