Phenylketonuria screening in the Republic of Macedonia
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LETTER TO THE EDITOR
Open Access
Phenylketonuria screening in the Republic of Macedonia Mirjana Kocova1* and Violeta Anastasovska2
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. Keywords: Phenylketonuria, Neonatal screening, Tandem mass spectrometry
Letter to the editor Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism (OMIM 261600) which impairs postnatal cognitive development, a consequence that can be prevented by early and continuous treatment with a semi-synthetic low-phenylalanine diet. PKU was among the first of the human genetic diseases to be recognised as potentially treatable [1], therefore PKU newborn screening has been introduced in many countries [2]. The overall prevalence of PKU phenotypes in European populations approximates 1/10,000 births [3]. Tansek Z et al. recently reported in Orphanet Journal of Rare Disease assessment of the current state of PKU screening and management in the region of southeastern Europe [4]. The survey included 11 countries from South-Eastern region of Europe including Macedonia. This report contains incorrect data for the PKU screening program and GDP per capita in Macedonia. The authors claimed that PKU newborn screening was not introduced in 4 out of 11 countries: Albania, Kosovo, Macedonia and Montenegro. However, in Macedonia selective newborn screening for inborn errors of metabolism, including PKU, as a part of the National program for mothers and children’s care of the Ministry of Health * Correspondence: [email protected] The following Letter to the Editor was written in response to “Phenylketonuria screening and management in southeastern Europe—survey results from 11 countries”, published in Orphanet Journal of Rare Diseases, 2015, 10:68] 1 Department of Endocrinology and Genetics, University Children’s Hospital, Vodnjanska 17, Skopje 1000, Republic of Macedonia Full list of author information is available at the end of the article
of Macedonia, has been introduced since 2011. It is performed by tandem mass spectrometry (LC/MS/MS—Liquid chromatography—tandem mass spectrometry). Six larger nurseries from all regions of the country were covered by the selective screening for metabolic disorders. The newborn screening bloodspot specimens were collected 48–72 h after birth. During 2012, 4072 newborns were screened and one newborn with phenylketonuria was detected and diagnosed subsequently. Amino acid analysis of the patient with PKU showed markedly elevated phenylalanine, 1802 μmol/L (reference range 0–150) and tyrosine value on the lower border, 26 μmol/L (0–350). The phe/tyr ratio, 69.3, was significantly elevated. Newborn screening for metabolic diseases in
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