National Information Centre

for Metabolic Diseases

a resource for young people, adults, families and professionals

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Welcome to Climb National Information Centre for Metabolic Diseases

Climb MCADD Conference 2013 in Northampton funded by the Charlie Mortimer Trust

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UK Newborn Screening

 

Climb has spent many years working alongside medical professionals and families pushing for Inhertied Metabolic Diseases (IMD) to be added to the Newborn Screening Programme.  This has involved gaining views and case studies from the families that we support, attending meetings, working with families to raise the profile of IMD's and the importance of screening and lobbying the Government and National Health Service. In June 2010 screening for MCADD was started throughout England after a 2 year pilot study and several years of research. 

The pilot service was funded by the Department of Health and the evaluation of the study was led by the Institute of Child Health, University College and Oxford University, The six screening centres, The British Inherited Metabolic Disease Group (BIMDG) and CLIMB.  Thanks to the collaboration of these groups and to the support from everyone involved it was agreed that as of April 2009 all babies in England will be routinely screened for MCADD via the heel prick test. This test already screens for Phenylketonuria (PKU), Congenital Hypothyroidism, Sickle Cell Disorders and Cystic Fibrosis. 

Climb is currently working with many other professionals and voluntary sector organisations to have 5 more IMD's added to the Newborn Screening List.

For information on how many babies are screened have a look at the UK Newborn Screening Records page (standard 9).

Why do we screen, what do we screen for...  more...

Need more information on MCADD ...  here...


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Last updated:
14 May 2013

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