Cost-benefit analysis of Hyperphenylalaninemia Due to 6-Pyruvoyl- Tetrahydropterin Synthase (PTPS) Deficiency: For Consideration of Expanded Newborn Screening in Hong Kong

ObjectivesTo evaluate the cost-benefit of implementing an expanded newborn screening programme for hyperphenylalaninemias due to 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency in Hong Kong.SettingRegional public hospitals in Hong Kong providing care for cases of inborn errors of metabolism.MethodsImplementational and operational costs of a new expanded mass spectrometry-based newborn screening programme were estimated. Data on various medical expenditures for the mild and severe phenotypic subtypes were gathered from a case cohort diagnosed with PTPS deficiency from 2001 to 2009. Local incidence from a previously published study was used.ResultsImplementation and operational costs of an expanded newborn screening programme in Hong Kong were estimated at HKD 10,473,848 (USD 1,342,801) annually. Assuming a birthrate of 50,000 per year and an incidence of 1 in 29,542 live births, the medical costs and adjusted loss of workforce per year would be HKD 20,773,207 (USD 2,663,232). Overall the annual savi...