and Treatment of Suspected Metabolic Disease
|Reviewed by Clinical
- Any sick baby where metabolic
disease is part of the differential diagnosis. Please discuss with the
consultant acutely - many of the presentations can present rapid demise.
- Important - you will get the best
out of these investigations if you contact the laboratory when you suspect metabolic
disease. Some of these tests have long turn-around times - if you donít tell
the lab you have a problem they canít do the tests urgently for you.
- Auckland site - Claire de Luen
(Biochemical Genetics, LabPlus, Ext 22061) can be contacted for all the
tests re sample and destination.
- For infants with suspected
metabolic problems, Dr Callum Wilson or Dr Emma Glamuzina should be contacted via Starship
- Ketones (β-Hydroxybutyrate,
- Acylcarnitine profile (plasma
or blood spot on Guthrie card)
- Free Fatty Acids
- Ketones - β-Hydroxybutyrate,
- Organic acids screen
- Amino acid screen
- Glycosaminoglycan (GAG) screen (if lysosomal disorder suspected)
- Ask the lab not to discard
specimens until you have an alternative diagnosis.
- Obtain bloods BEFORE
treatment is commenced.
Consult the online laboratory test guide for information on appropriate
specimen tubes and sample volumes, and any special specimen transport
Any child who dies without a
Information for post-mortem studies, please discuss with Laboratory if live
tissue for culture and with pathologist if post mortem is to be performed.
- Blood (cardiac if not otherwise
available) on filter paper
- Blood (request lab to separate and freeze red cells and plasma separately)
as soon as possible post-mortem.
- Urine - freeze
- Skin biopsy -fibroblast (details http://TestGuide.adhb.govt.nz/EGuide/)
- Liver/kidney/muscle (small sugar
cube size wrap in tinfoil, and snap frozen, -70°C, use liquid
nitrogen or dry ice if possible. Samples are best taken as soon after death as
possible. Consider a needle biopsy if it might take some time to get the
- Hold samples. Await histology.
Remember to ask for fat stains as important indicators of metabolic disease (e.g..
fatty acid oxidation defects).
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
Refer to Starship Clinical Guidelines for emergency management of metabolic