Published 11 May 2021

Congenital metabolic diseases

National Quality Registry for Congenital Metabolic Diseases

Registry category: Rare diseases

Certification level: 3

Central personal data controller (CPUA): Region Östergötland

All newborn infants in Sweden have been given a PKU test since the mid-1960s. The aim is to find children with any of a number of rare but serious congenital diseases that can be treated, but in which an early diagnosis is important for the prognosis. Among the roughly 100,000 children born every year in Sweden, between 70 and 80 will have one of the 24 diseases included in the screening.

The quality registry is a key factor in the evaluation of the neonatal screening process. No such registry has previously existed in Sweden. Moreover, there are national care programmes for only a few of the diseases we screen for. A quality registry thus presents considerable potential benefits, for both the patient and the world.

The overall aim is to give the patients an opportunity for better health and quality of life. This is achieved by providing a system for comparisons between different treatment strategies in order to develop better and more uniform care programmes.

Contact information

Find contact information on the registry’s website.

National Quality Registry for Congenital Metabolic Diseases