§ Lord Rixasked Her Majesty's Government:
What tests are available for individual metabolic diseases (including phenylketonuria (PKU) and hypothyroidism), in what hospitals they are performed and how many children have been protected, through early screening, from developing such disease.
§ The Parliamentary Under-Secretary of State, Department of Health (Baroness Cumberlege)There are many hundreds of metabolic diseases, most of them very rare. Specialised services are provided from diverse units, linked through professional networks. Details of the hospitals in which tests are performed for individual metabolic diseases are not collected centrally, nor (with the exception of phenylketonuria (PKU) and congenital hypothyroidism) is the number of children known to have been protected through early screening from developing each such disease.
Screening of all children, soon after birth, is offered for PKU and congenital hypothyroidism. Early screening for PKU leads to beneficial interventions (but not cure) for about 70 infants each year in 45WA England and Wales. In the case of congenital hypothyroidism about 170 infants are detected each year through early screening and protected by treatment. Neonatal screening for PKU and congenital hypothyroidism is organised on a national basis.