which can be treated through dietary management. Public Health England
explains
At the start of 2015, Public Health England announced that all newborn babies in England would be screened for four additional rare conditions: maple syrup urine disease (MSUD), isovaleric acidaemia (IVA), glutaric aciduria type 1 (GA1) and homocystinuria (HCU).
Although these are very rare, affecting about 30 children a year in England (out of about 700,000 born), by detecting and treating these conditions we can prevent those babies affected from dying or being severely disabled for the rest of their lives. Clearly, the benefits of this screening programme are huge.
Parents will already be familiar with the longstanding NHS Newborn Blood Spot Screening Programme that has, for many years, identified those babies at risk of sickle cell disease (SCD), cystic fibrosis (CF), congenital hypothyroidism (CHT), phenylketonuria (PKU) and medium-chain acyl-CoA dehydrogenase deficiency (MCADD). The additional conditions will form part of this same screening test, which parents may recognise as the 'heel-prick blood test'.
Raising awareness
Parents with older children who will have missed this new screening programme should be reassured that these conditions are not only incredibly rare but that the small number of babies with one of these conditions is likely to have already developed symptoms and be seeing a healthcare professional.
The screening programme has, however, produced resources to raise awareness of the conditions, including their symptoms, and we would encourage professionals to view these at www.newbornbloodspot.screening.nhs.uk.
The symptoms of these rare conditions are not always obvious in very small babies (such as excessive sleepiness and floppiness) but they can develop quickly and without warning. Treatment is, however, relatively simple. Through careful, lifelong dietary management and in some cases additional supplements, babies with these conditions can go on to live healthy, normal lives.
Like some of the conditions that already form part of the newborn blood-spot screening programme (PKU and MCADD), these additional rare conditions are inherited genetic disorders. This means that if parents have a baby with one of the conditions, there is a one in four chance that a future baby may also have the condition. Parents may, understandably, have questions about what this could all mean for future pregnancies and should consult their GP or health visitor.
