Current Paediatrics
Volume 12, Issue 2 , Pages 110-116, April 2002

Investigation and initial management of suspected metabolic disease

  • J.H. Walter (Consultant Paediatrician with a Special Interest in Metabolic Diseases)

      Affiliations

Willink Biochemical Genetics Unit, Royal Manchester Children’s Hospital, Manchester, M27 4HA, UK

Abstract 

Inherited metabolic disease commonly presents acutely in infants and children. For those involved with care of sick children, it is important to know when to suspect such disorders, the appropriate investigations and how to initiate treatment. This paper serves as an introduction to this topic and updates an article published in 1997.

Keywords: metabolic disease, hyperammonaemia, hypoglycaemia, newborn

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  • f1 Correspondence to: JHW. E-mail: john@jhwalter.demon.co.uk

PII: S0957-5839(01)90261-1

doi:10.1054/cupe.2001.0261

Current Paediatrics
Volume 12, Issue 2 , Pages 110-116, April 2002

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