Investigation and Treatment of Suspected Metabolic Disease

 

Reviewed by Clinical Practice Committee
May 2016
Clinical Guidelines Back Newborn Services Home Page
General Guidelines Post-Mortem Samples and Analysis Emergency Management

General Guidelines

Blood

Urine

General Notes

Consult the online laboratory test guide for information on appropriate specimen tubes and sample volumes, and any special specimen transport instructions (http://testguide.adhb.govt.nz/EGuide/ )

Any child who dies without a diagnosis, SIDS:

Information for post-mortem studies, please discuss with Laboratory if live tissue for culture and with pathologist if post mortem is to be performed.
 

Remember Guthrie cards are kept by National Testing Centre for organic acid analysis etc. (via Tandem Mass Spec. Also possible to do DNA studies [e.g. MCAD] when a likely diagnosis is found).

Emergency protocol for presumed metabolic disease

Refer to Starship Clinical Guidelines for emergency management of metabolic conditions https://www.starship.org.nz/for-health-professionals/starship-clinical-guidelines/m/metabolic-disease/