Competency information
Details
Perform the analyses to laboratory standard operating procedures, or following the local protocol in the investigation of a patient with suspected inborn error of metabolism.
Considerations
- The clinical features and the clinical and laboratory investigation of neonates and infants suspected as having an inborn error of metabolism:
- amino acid disorders
- organic acid disorders
- urea cycle disorders
- fatty acid oxidation defects
- carbohydrate disorders
- lysosomal storage disorders
- respiratory chain disorders
- peroxisomal disorders
- purine and pyrimidine disorders.
- The laboratory techniques involved in the investigation of an inborn error of metabolism:
- gas chromatography
- liquid chromatography
- tandem mass spectrometry
- molecular diagnostics.
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 1 | Outcome Perform the range of biochemical, point-of-care and molecular techniques used in the work-base to investigate pregnant women, neonates and infants. |
| # 5 | Outcome The clinical and laboratory investigation and management of neonates and infants suspected of having an inborn error of metabolism. |