The National Patient Safety Agency (NPSA) has issued a Rapid Response Report (NPSA/2011/RRR002) regarding medium-chain acyl-CoA dehydrogenase deficiency (MCADD), a rare inherited disorder where the body cannot metabolise fat properly.

If both parents are MCADD carriers, the child has a one-in-four chance of being born with the condition.  New born babies are heavily dependent on fat metabolism for their energy needs in the first 2-3 days of life, and those with MCADD are especially vulnerable to early neonatal death.  Screening for MCADD is part of the UK new born screening programme, which is offered to all babies in England at 5-8 days of age. A baby with a family history of MCADD should have special rapid testing 24 to 48 hours after birth and must be given a special feeding regimen from the moment of birth. 

The National Reporting and Learning System (NRLS) received two reports of deaths between 2006 and 2011 of newborn babies from MCADD who were born to families with a history of the disease.  Although the mothers had mentioned the family history to healthcare staff when they were pregnant, the staff were not aware of the significance of MCADD, and therefore did not arrange any specialist referrals, special feeding regimen or observation.  Six additional ‘no harm’ incidents reported to the NRLS indicated similar omissions, but without any adverse effects.

The Report lists actions to be taken by all General Practitioners, NHS organisations providing obstetric, midwifery, neonatal or paediatric services, and specialist centres for inherited metabolic disease, by 26th April 2012.  Please see the links below for further details.