Neonatal screening for phenylketonuria.
نویسنده
چکیده
The case histories are reported of three patients with phenylketonuria (PKU) in whom the initial Guthrie screening for PKU was falsely negative. Possible explanations for this problem are reviewed, as well as the limited cost-effectiveness of general re-testing. Guidelines are suggested to im prove the sensitivity of PKU screening procedures for newborns.
منابع مشابه
Neonatal screening for congenital hypothyroidism and phenylketonuria in China.
BACKGROUND Neonatal screening is helpful to prevent serious disability and sufferings caused by congenital or inherited disease. This study was to review the status of neonatal screening for congenital hypothyroidism (CH) and phenylketonuria (PKU) in China. METHODS We analyzed data of neonatal screening for CH and PKU in the past two decades which were obtained from the national network of ne...
متن کاملPhenylketonuria screening in the Republic of Macedonia
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 Maced...
متن کاملEconomic evaluation of neonatal screening for phenylketonuria and congenital hypothyroidism
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ورودعنوان ژورنال:
- Annals of clinical and laboratory science
دوره 12 5 شماره
صفحات -
تاریخ انتشار 1982