[PDF] BIMDG protocol: management of a baby at risk of a urea cycle disorder

Source:
British Inherited Metabolic Disease Group
Publisher:
British Inherited Metabolic Disease Group (BIMDG)
Publication date:
23 November 2009

Abstract

This guidance addresses the management of the at-risk child during pregnancy and at birth. The following steps should be undertaken:

  • A careful history is essential and should be reviewed by a specialist.
  • If a previous sibling became ill shortly after birth, discuss management with specialist.
  • The pregnancy should proceed normally. In the third trimester obtain supplies of the medicines used in urea cycle disorders.
  • Inform the clinical biochemistry laboratory about the impending birth, as it is essential that results are available quickly.