Five neonatal tests in UK screens expand orphan markets
This article was originally published in Scrip
Executive Summary
The UK is considering extending the "heel-prick" neonatal screening programme to include tests for a further five rare inherited conditions, thereby creating potentially expanded markets for treatment. 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.
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