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Newborn babies to be screened for rare metabolic disorder

19 February 2007

By Antony Blackburn-Starza

Appeared in BioNews 395

All newborn babies in England will be offered screening for the rare metabolic disorder Medium Chain Acyl CoA Dehydrogenase Deficiency (MCADD). MCADD is an autosomal recessive genetic disorder that is caused by a lack of an enzyme that converts fat into energy, affecting blood sugar levels. The condition only affects between one in 10,000 and one in 20,000 UK babies a year but results in death in around a quarter of babies affected, while a third of survivors suffer brain damage. Once detected, however, the disorder is simple to treat and the risk of death or neurological damage is greatly reduced.

The announcement was made by MP and Health minister, Ivan Lewis, following a successful pilot study currently being conducted by the National Screening Committee, which although not due for completion until 2008, has already produced a wealth of evidence concerning clinical efficacy. Dr Sheila Shribman, the National Clinical Director for Children, commented on the study, 'Evidence shows that screening newborn babies for this condition will not only save lives but it can significantly improve their quality of life'. Given as part of the 'heel-prick' test, which is routinely given to babies once they are around two-weeks old to screen for phenlylketonuria (PKU) cystic fibrosis and sickle cell disorders, among other conditions, the test for MCADD will also be cost efficient.

'I am delighted that all newborn babies will be screened for MCADD', said MP Ivan Lewis, 'Not only will the introduction of this screening program save lives it will improve the quality of life for those children affected by this condition'.

BBC News Online | 07 February 2007
Public Health Genetics Unit | 08 February 2007


17 January 2011 - by Stephen Nutt 
A report released recently by Rare Disease UK (RDUK) demonstrates how patients and families affected by rare diseases frequently have problems accessing good quality services, care and support. The report, 'Experiences of Rare Diseases: An Insight from Patients and Families'[1], is based on a survey of 600 patients and families conducted by RDUK to examine a wide range of topics pertinent to patients with rare diseases: diagnosis, participation in research, access to treatment, information, ...
16 August 2010 - by Dr Lux Fatimathas 
Newborn babies showing signs of liver disorders will be screened for 92 genetic conditions, as part of a trial launching next month at Birmingham Children's Hospital. Newborns will be screened for multiple conditions with a single test using gene chip technology....

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