Current Paediatrics
Volume 12, Issue 2 , Pages 117-124, April 2002

Principles of management of the more common metabolic disorders

  • A. Chakrapani (Consultant in Inherited Metabolic Disease)

      Affiliations

    • Department of Clinical Inherited Metabolic Disease, Birmingham Children's Hospital, Steelhouse Lane, Birmingham, B5 6NH, UK
  • ,
  • J.E. Wraith (Consultant in Inherited Metabolic Disease and Director)

      Affiliations

    • Willink Biochemical Genetics Unit, Royal Manchester Children's Hospital, Hospital Road, Manchester, M27 4HA, UK

Abstract 

The range of inborn errors of metabolism is constantly expanding, with descriptions of new disorders and variants of classical disorders appearing regularly in the medical literature. Advances have been made in the diagnosis and treatment of many metabolic conditions and currently, effective treatment is available for a number of disorders. Curative therapy may be possible, for at least some inborn errors, in the near future. Supportive care is important for all patients; it is the mainstay of management when no specific therapy is possible.

Keywords: metabolic diseases, treatment

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  • f1 Correspondence to: AC. Tel.: +44(0)121 3339899; Fax: +4(0)121 3339911; E-mail: anupam.chakrapani@bhamchildrens.wmids.nhs.uk

PII: S0957-5839(01)90262-3

doi:10.1054/cupe.2001.0262

Current Paediatrics
Volume 12, Issue 2 , Pages 117-124, April 2002