Update on expanded newborn screening

In January 2015, the National Health Service Newborn Blood Spot Screening Programme in England was expanded to include four additional diseases: maple syrup urine disease (MSUD), isovaleric acidaemia (IVA), glutaric aciduria type 1 (GA1) and homocystinuria (pyridoxine-non-responsive type). The UK National Screening Committee recommended the addition of these inherited metabolic conditions following a pilot study in England. They now form part of routine newborn screening, along with testing for phenylketonuria, cystic fibrosis, sickle cell disease, congenital hypothyroidism and medium-chain acyl-CoA dehydrogenase deficiency (MCADD).