Death of a child with a suspected metabolic disorder

  • Urgent autopsy for suspected metabolic disorder

    • In some instances a child may die of a suspected metabolic disease, but no formal diagnosis made. These children may need an urgent metabolic autopsy, for example skin and liver biopsies before the formal postmortem.
       
    • In all cases a fully informed consent for a metabolic autopsy examination should be obtained prior to death by the Metabolic or treating Medical team.
       
    • The treating medical team should liaise with a metabolic physician to avoid mistakes in obtaining and handling of samples. 
       
    • Before biopsies are taken, the Metabolic physician and the appropriate laboratory staff should be alerted (including the metabolic and mitochondrial Laboratories). 
        
    • A 'metabolic autopsy kit', which includes a protocol for obtaining samples, is located in a refrigerator in Core Laboratory 2nd floor. A Dry Ice machine is located on the 10th floor (laboratory section).  
       
    • These samples must be collected as soon as possible after death, preferably within 2 hours:
      • Obtain blood, urine and CSF samples if possible for further metabolic analysis as per metabolic disorder guideline. Separate blood and freeze samples at -20 or -70 freezer in Core laboratory 2nd floor.
      • Blood spots on a Guthrie card are easy to obtain and may be very informative. Leave to dry in room air. Do not store in a plastic envelope.
      • Skin biopsy for fibroblast culture (one piece, full thickness 2-3mm diameter); put in culture medium or sterile normal saline, refrigerate, do not freeze
      • Skeletal muscle biopsies (three 0.5 cm cubes) wrap two in foil and freeze in dry ice, place one in glutaraldehyde and refrigerate (-20 or -70 Freezer and refrigerator in Core lab 2nd floor)
      • Liver biopsy (three 0.5cm cubes if open biopsy or  three 14G cannula cores), store as per muscle biopsies (store as above)
      • Blood for DNA tests (5-10ml EDTA tube)
         
    • Skin biopsies during business hours are undertaken by the Metabolic team nurse. After hours biopsies are usually taken by the Surgical Registrar in the treatment room of the ward (or ED or in ICU).  The Surgical Registrar is not able to obtain informed consent regarding the need for biopsy, this should be done by the Metabolic or treating Medical team as they are aware of the indications for the metabolic autopsy. 

    See also

    Withholding or Withdrawal of Life-Sustaining Treatment