UK to introduce newborn screening for MCADD

8 February 2007

UK Health Minister Ivan Lewis has announced that all newborn babies in England will be offered screening for the metabolic disorder Medium Chain Acyl CoA Dehydrogenase Deficiency (MCADD) as part of standard newborn screening by March 2009  (see press release). MCADD is an autosomal recessive genetic disorder that affects a key metabolic enzyme, impairing the ability to maintain normal blood sugar levels during metabolic stress; the condition is associated with high death rates and severe neurological damage in affected children. It is rare, affecting between one in 10,000 and one in 20,000 births, but early detection and simple clinical management substantially reduces the risk of death and disability.

The UK National Screening Committee (NSC) has been running a pilot study for newborn MCADD screening, with over a million babies screened since 2004; their final report is due in 2008, but sufficient evidence of clinical and cost efficacy has already accumulated for the NSC to recommend the implementation of a national screening programme for the disorder. National Clinical Director for Children Sheila Shribman said: "Evidence shows that screening newborn babies for this condition will not only save lives but it can significantly improve their quality of life. Simple treatment through dietary management will substantially reduce the risk

of death and the risk of acute, serious illness" (see BBC news report).


The MCADD testing will form part of the standard Newborn Screening Programme in England, which tests ‘heel-prick’ bloodspot samples from babies for the genetic diseases phenylketonuria, congenital hypothyroidism, sickle cell disorders and cystic fibrosis.

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