Phenylketonuria screening in the Republic of Macedonia

Mirjana Kocova; Violeta Anastasovska

doi:10.1186/s13023-016-0483-2

Phenylketonuria screening in the Republic of Macedonia

Journal

Orphanet Journal of Rare Diseases

Date Issued

2016

Author(s)

DOI

10.1186/s13023-016-0483-2

Abstract

Phenylketonuria is an autosomal recessive inborn error of metabolism which can be prevented by early and continuous treatment. Therefore newborn screening for phenylketonuria has been introduced in many countries. We present here the results of the selective newborn screening for inborn errors of metabolism, including PKU, performed by tandem mass spectrometry which has been introduced in Macedonia since 2011.