Medium-chain acyl-CoA dehydrogenase deficiency (MCADD), makes it hard for the body to break down fats and produce energy and affects one in 10,000 babies born in the UK.
If left untreated the condition almost always causes severe developmental problems, including serious mental disability or even death.
28 February 2014 marked the 7th annual World Rare Disease Day which aims to raise awareness of rare conditions that can have a serious impact on patients’ lives, such as MCADD.
The newborn screening programme offers screening to all babies in the UK to identify those who are at high risk of having certain serious but rare conditions.
Dr Anne Mackie, director of programmes for the UK National Screening Committee (UKNSC), part of Public Health England said: “Last year over 650,000 babies were screened through the programme and 1,287 were identified as high risk for conditions that include sickle cell disease, cystic fibrosis and MCADD.
“Screening for MCADD saves approximately 12 children’s lives a year. Early identification, leading to treatment helps ensure these babies can go on to live full and happy lives.”
Source: Nursing in Practice