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NICU guideline identifier

Metabolic Disease in the newborn

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General Guidelines

  • 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 don't tell the lab you have a problem they can't 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 Hospital. 


Ketones (β-Hydroxybutyrate, acetoacetate) 
Acylcarnitine profile (plasma or blood spot on Guthrie card) 
Free Fatty Acids
Ketones - β-Hydroxybutyrate, acetoacetate) 
Organic acids screen 
Amino acid screen 
Glycosaminoglycan (GAG) screen (if lysosomal disorder suspected)

General Notes

  • 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 instructions ( )

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.

  • 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
  • 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 post-mortem samples). 
  • 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 metabolic disease

Refer to Starship Clinical Guidelines for emergency management of metabolic conditions 

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Document Control

  • Date last published: 31 May 2016
  • Document type: Clinical Guideline
  • Services responsible: Neonatology
  • Owner: Newborn Services Clinical Practice Committee
  • Editor: Sarah Bellhouse
  • Review frequency: 2 years