Propionic Acidaemia with Negative Antenatal Testing - Clinical Protocol for Post-Natal Testing for Babies at Risk of

Publication: 21/05/2013  --
Last review: 08/08/2019  
Next review: 08/08/2021  
Clinical Protocol
ID: 3338 
Approved By: Trust Clinical Guidelines Group 
Copyright© Leeds Teaching Hospitals NHS Trust 2019  


This Clinical Protocol is intended for use by healthcare professionals within Leeds unless otherwise stated.
For healthcare professionals in other trusts, please ensure that you consult relevant local and national guidance.

Clinical Protocol for Post-Natal Testing for Babies at Risk of Propionic Acidaemia with Negative Antenatal Testing

Background and indications for clinical protocol

In families with members affected by propionic acidaemia, antenatal testing should be routinely performed. This is usually in the way of chorionic villous sampling. There is a small chance a ‘negative’ result may be wrong, therefore post-natal examination and investigations are essential prior to the baby being discharged home.

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Procedure method

All babies must remain in hospital for at least 48 hours.

1. Day of delivery

  • Complete examination by a paediatrician (ST4 or above) & inform consultant on-call.
  • If the baby is lethargic, jittery or tachypnoeic an urgent 
venous ammonia should be sent.

2. Between 24 and 48 hours of age

  • Urine sample to biochemistry for organic acids
  • Guthrie blood spot for acylcarnitine.
  • (This is because there is a very small chance the CVS testing may be incorrect.)

3. After 48 hours of age if

  • the baby remains clinically well,
  • has been seen by an experienced paediatrician (ST4 or above) and
  • the relevant urine and blood samples have been sent and results chased
  • they may go home with appropriate advice & information leaflet (below). 
If at any point the baby becomes unwell, they need urgent review and management by a senior paediatrician.
  • Ensure community midwife and GP are aware of baby’s discharge.

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Record: 3338

To provide a clear protocol for the management of babies born with a family history of propionic acidaemia and negative antenatal testing.

Clinical condition:

Inborn errors of metabolism

Target patient group: Babies who fulfil the above criteria
Target professional group(s): Secondary Care Doctors
Secondary Care Nurses
Adapted from:

Evidence base

C. Expert consensus.

Approved By

Trust Clinical Guidelines Group

Document history

LHP version 1.0

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