Global prevalence of classic phenylketonuria based on Neonatal Screening Program Data: systematic review and meta-analysis

Clinical and Experimental Pediatrics

Zohre Bagherinezhad¹  Ali Akbar Haghdoost²  Hamid Reza Shoraka³  Mohammad Reza Baneshi⁴  Farzaneh Zolala⁵ 

[1] Department of Medical Library and Information Science, Kerman University of Medical Sciences, Kerman, Iran;HIV/STI Surveillance Research Center, and WHO Collaborating Center for HIV Surveillance, Institute for Futures Studies in Health, Kerman University of Medical Sciences, Kerman, Iran;Health Services Management Research Center, Institute for Futures Studies in Health, Kerman University of Medical Sciences, Kerman, Iran;Modeling in health research center, Institute for futures studies in health, Kerman University of medical sciences, Kerman, Iran;Social Determinants of Health Research Center, Institute for Futures Studies in Health, Kerman University of Medical Sciences, Kerman, Iran;

关键词: phenylketonuria;    prevalence;    neonates;    screening;    meta-analysis;   

DOI  :  10.3345/kjp.2019.00465

来源: DOAJ

【 摘 要 】

Phenylketonuria is a disease caused by congenital defects in phenylalanine metabolism that leads to irreversible nerve cell damage. However, its detection in the early days of life can reduce its severity. Thus, many countries have started disease screening programs for neonates. The present study aimed to determine the worldwide prevalence of classic phenylketonuria using the data of neonatal screening studies. The PubMed, Web of Sciences, Sciences Direct, ProQuest, and Scopus databases were searched for related articles. Article quality was evaluated using the Joanna Briggs Institute Critical Appraisal Evaluation Checklist. A random effect was used to calculate the pooled prevalence, and a phenylketonuria prevalence per 100,000 neonates was reported. A total of 53 studies with 119,152,905 participants conducted in 1964–2017 were included in this systematic review. The highest prevalence (38.13) was reported in Turkey, while the lowest (0.3) in Thailand. A total of 46 studies were entered into the meta-analysis for pooled prevalence estimation. The overall worldwide prevalence of the disease is 6.002 per 100,000 neonates (95% confidence interval, 5.07–6.93). The metaregression test showed high heterogeneity in the worldwide disease prevalence (I2=99%). Heterogeneity in the worldwide prevalence of phenylketonuria is high, possibly due to differences in factors affecting the disease, such as consanguineous marriages and genetic reserves in different countries, study performance, diagnostic tests, cutoff points, and sample size.

【 授权许可】

Unknown