Phenylketonuria screening in the Republic of Macedonia
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Mirjana Kocova1, Violeta Anastasovska2
1Department of Endocrinology and Genetics, University Children's Hospital, Vodnjanska 17, Skopje, 1000, Republic of Macedonia. mirjanakocova@yahoo.com.
Orphanet Journal of Rare Diseases
|August 7, 2016
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.