Competency information
Details
Assist with at least two of the analyses performed for the investigation of:
- inherited metabolic disease (IMD)
- sudden unexpected death in infancy (SUDI).
Considerations
- The clinical signs and symptoms, biochemistry and diagnosis of inborn errors of metabolism, for example:
- orntihine transcarbamylase deficiency
- maple syrup urine disease
- methylmalonic acidaemia.
- The standardised protocol for collection and storage of appropriate samples in the (expected) event of SUDI.
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 4 | Outcome The clinical and laboratory investigation and management of neonates and infants with failure to thrive, hypoglycaemia, jaundice, and hyperammonaemia. |
| # 5 | Outcome The clinical and laboratory investigation and management of neonates and infants suspected of having an inborn error of metabolism. |
| # 6 | Outcome Work in partnership with other clinical specialisms in the investigation of neonates and infants. |
| # 7 | Outcome Interpret and report results of clinical and laboratory investigations relating to pregnancy, neonatology and paediatric clinical biochemistry in the correct clinical context. |