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

Lee, Han-Chih Hencher; Mak, Chloe Miu; Poon, Grace Wing-Kit; Wong, K K; Lam, Ching‐Wan

doi:10.1177/0969141314533531

Cited by 5 publications

(4 citation statements)

References 50 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Our results are similar to those found in countries with much more sophisticated means of cost assessment 11 and more specific testing. 12 Savings are primarily attributable to avoided costs of medical care, and to benefits derived from the prevention of mental disability, which may partially or totally disrupt the future life and productivity of patients. 9,13 For instance, an early detected, well-managed maple syrup urine disease or methylmalonic acidemia patient in Lebanon may lead a virtually normal life, can hold a job during adult life, and earn at least the legal minimal wage of 5,400 USD 14 for each fully productive year with a normal life-expectancy of 69 years.…”

Section: Discussionmentioning

confidence: 99%

Cost-benefit analysis: Newborn screening for inborn errors of metabolism in Lebanon

et al. 2015

View full text Add to dashboard Cite

Objectives: Few countries in the Middle East-North Africa region have adopted national newborn screening for inborn errors of metabolism by tandem mass spectrometry (MS/MS). We aimed to evaluate the cost-benefit of newborn screening for such disorders in Lebanon, as a model for other developing countries in the region. Methods: Average costs of expected care for inborn errors of metabolism cases as a group, between ages 0 and 18, early and late diagnosed, were calculated from 2007 to 2013. The monetary value of early detection using MS/MS was compared with that of clinical ''late detection'', including cost of diagnosis and hospitalizations. Results: During this period, 126000 newborns were screened. Incidence of detected cases was 1/1482, which can be explained by high consanguinity rates in Lebanon. A reduction by half of direct cost of care, reaching on average 31,631 USD per detected case was shown. This difference more than covers the expense of starting a newborn screening programme. Conclusion: Although this model does not take into consideration the indirect benefits of the better quality of life of those screened early, it can be argued that direct and indirect costs saved through early detection of these disorders are important enough to justify universal publicly-funded screening, especially in developing countries with high consanguinity rates, as shown through this data from Lebanon.

show abstract

Section: Discussionmentioning

confidence: 99%

Cost-benefit analysis: Newborn screening for inborn errors of metabolism in Lebanon

et al. 2015

View full text Add to dashboard Cite

show abstract

“…Additionally, the early confirmation of diagnosis is critical for the dietary treatment and drug treatment of BH4D ( Campistol Plana, 2019 ; Opladen et al, 2020 ). Newborn screening (NBS) is cost-beneficial and can save considerable public expenditure ( LEE et al, 2014 ). Many countries have also made great advances in the early diagnosis and treatment of BH4D using NBS ( Ye et al, 2002 ; Niu, 2011 ; Li et al, 2018 ; Souza et al, 2018 ).…”

Section: Introductionmentioning

confidence: 99%

Mutation spectrum of PTS gene in patients with tetrahydrobiopterin deficiency from jiangxi province

et al. 2022

View full text Add to dashboard Cite

Background: Hyperphenylalaninemia (HPA) is the most common inborn error in amino acid metabolism. It can be primarily classified into phenylalanine hydroxylase (PAH) deficiency and tetrahydrobiopterin (BH4) deficiency. BH4 deficiency (BH4D) is caused by genetic defects in enzymes involved in the biosynthesis and regeneration of BH4. 6-pyruvoyl-tetrahydropterin synthase (PTPS/PTS), which is encoded by the PTS gene, participates in the biosynthesis of BH4. PTPS deficiency (PTPSD) is the major cause of BH4D. In this study, we investigated that the prevalence of BH4D in Jiangxi province was approximately 12.5 per 1,000,000 live births (69/5,541,627). Furthermore, the frequency of BH4D was estimated to be 28.8% (69/240) in the HPA population of Jiangxi. In this study, we aimed to characterize the mutational spectrum of the PTS gene in patients with PTPSD from Jiangxi province.Method: Newborn screening data of Jiangxi province from 1997 to 2021 were analyzed and 53 families with PTPSD were enrolled for the analysis of the PTS gene variants by Sanger sequencing.Results: 106 variants were identified in 106 alleles of 53 patients with PTPSD, including 13 types of variants reported previously, and two novel variants (c.164-36A>G and c.146_147insTG). The predominant variant was c.259C>T (47.2%), followed by c.84-291A>G (19.8%), c.155A>G (8.5%), c.286G>A (6.6%) and c.379C>T (4.7%).Conclusion: The results of this study can not only provide guidance for the molecular diagnosis and genetic counseling in cases of PTPS deficiency but also enrich the PTS mutation database.

show abstract

“…Step 10: Cost-benefit analysis A cost-benefit analysis has been conducted and published previously. 26…”

Section: Step 8: Confirmation Testmentioning

confidence: 99%

The first pilot study of expanded newborn screening for inborn errors of metabolism and survey of related knowledge and opinions of health care professionals in Hong Kong

et al. 2018

View full text Add to dashboard Cite

show abstract

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

Abstract: Our estimates show that implementation of an expanded newborn screening programme in Hong Kong is cost-effective, with a significant annual saving for public expenditure.

Cited by 5 publications

References 50 publications

Cost-benefit analysis: Newborn screening for inborn errors of metabolism in Lebanon

Cost-benefit analysis: Newborn screening for inborn errors of metabolism in Lebanon

Mutation spectrum of PTS gene in patients with tetrahydrobiopterin deficiency from jiangxi province

The first pilot study of expanded newborn screening for inborn errors of metabolism and survey of related knowledge and opinions of health care professionals in Hong Kong

Contact Info

Product

Resources

About