UK strives for neonatal screening cutting-edge with trial of five tests
This article was originally published in Clinica
Executive Summary
The UK is considering extending the “heel-prick” neonatal screening programme to include tests for a further five rare inherited conditions. These are: maple syrup urine disease, homocystinuria, glutaric acidaemia type 1, isovaleric acidaemia and long chain fatty acidaemia, each of which affects around 1 in 100,000 births.