BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia

Souza, Cezar Antonio Abreu de; Alves, Michelle Rosa Andrade; Soares, Rosângelis D. L.; Kanufre, Viviane de Cássia; Rodrigues, Valéria de Melo; Norton, Rocksane de Carvalho; Starling, Ana Lúcia Pimenta; Aguiar, Marcos José Burle de

doi:10.1016/j.jped.2017.04.005

Cited by 11 publications

(11 citation statements)

References 19 publications

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“…1) Phenylketonuria (PKU) is an inborn error of amino acid metabo lism caused by phenylalanine hydroxylase gene mutations. 2,3) PKU patients experience an irreversible decrease in intelligence quotient scores, suppressed verbal function, impaired attention, and underdeveloped motor control skills. 4,5) The early diagnosis of PKU before the end of the first month of life is critical to controlling hyperphenylalaninemia.…”

Section: Global Prevalence Of Classic Phenylketonuria Based On Neonatmentioning

confidence: 99%

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

et al. 2020

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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 (<i>I</i><sup>2</sup>=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.

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Section: Global Prevalence Of Classic Phenylketonuria Based On Neonatmentioning

confidence: 99%

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

et al. 2020

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“…Testing for HPA is included in neonatal screening in most parts of the world. Because early and regular treatment for HPA is correlated with better prognosis [ 9 , 17 ], patients should be diagnosed and treated as soon as possible. In our study, we found that the primary treatment time was within 1 month after birth.…”

Section: Discussionmentioning

confidence: 99%

Neonatal screening and genotype-phenotype correlation of hyperphenylalaninemia in the Chinese population

Wang

et al. 2021

Orphanet J Rare Dis

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Background Hyperphenylalaninemia (HPA) is the most common amino acid metabolic disease involving phenylalanine hydroxylase (PAH, OMIM*612,349) deficiency or coenzyme tetrahydrobiopterin (BH4) deficiency. Patients with severe HPA often have a difficult life. Early diagnosis of HPA before the development of symptoms is possible via neonatal screening, facilitating appropriate treatment and reducing mortality and disability rates. This study revealed the prevalence, mutational and phenotypic spectrum, and prognosis of HPA by neonatal screening from January 2001 to September 2020 in Nanjing, Jiangsu Province, China. Methods Through a retrospective analysis of the information available in the neonatal screening database, the clinical presentations, laboratory data, molecular characteristics and treatment follow-up data of HPA patients detected by neonatal screening were evaluated. Results We diagnosed 181 patients with HPA from 1 to 957 newborns, giving an incidence of 1:6873. Among these patients, 177 were identified as PAH deficient and four patients were BH4 deficient. The average current age of the patients was 6.38 years old. The most common mutations of PAH were c.728 C > A/ p.Arg243Gln (13.83 %), c.158G > A/ p.Arg53His (9.57 %), c.611 A > G/ p.Tyr204Cys (7.44 %), and c.721 C > T/ p.Arg241Cys (6.38 %). Conclusions This study revealed the prevalence, phenotype-genotype, and prognosis of HPA in China and contributes to the updating of PAHD data for China and worldwide. Our study not only expanded the spectrum of phenotypes and genotype but also provided a valuable tool for improved genetic counseling and management of future cases.

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“…Data from 2018 to 2019 from DATASUS, the informatics department of the SUS [ 14 ], demonstrates that 6,495 diagnostic procedures for RD were performed by the first five RDRS that presented production data. Considering that the more robust RDRS attend approximately 1000 patients per year, and the others 500 patients per year, a sample number of approximately 55,000 individuals is estimated.…”

Section: Plans and Goalsmentioning

confidence: 99%

Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN)

Félix

Oliveira

Artifon

et al. 2022

Orphanet J Rare Dis

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The Brazilian Policy of Comprehensive Care for People with Rare Diseases (BPCCPRD) was established by the Ministry of Health to reduce morbidity and mortality and improve the quality of life of people with rare diseases (RD). Several laboratory tests, most using molecular genetic technologies, have been incorporated by the Brazilian Public Health System, and 18 specialised centres have so far been established at university hospitals (UH) in the capitals of the Southern, Southeastern and Northeastern regions. However, whether the available human and technological resources in these services are appropriate and sufficient to achieve the goals of care established by the BPCCPRD is unknown. Despite great advances in diagnosis, especially due to new technologies and the recent structuring of clinical assessment of RD in Brazil, epidemiological data are lacking and when available, restricted to specific disorders. This position paper summarises the performance of a nationally representative survey on epidemiology, clinical status, and diagnostic and therapeutic resources employed for individuals with genetic and non-genetic RD in Brazil. The Brazilian Rare Disease Network (BRDN) is under development, comprising 40 institutions, including 18 UH, 17 Rare Diseases Reference Services and five Newborn Screening Reference Services. A retrospective study will be initially conducted, followed by a prospective study. The data collection instrument will use a standard protocol with sociodemographic data and clinical and diagnostic aspects according to international ontology. This great collaborative network is the first initiative of a large epidemiological data collection of RD in Latin America, and the results will increase the knowledge of RD in Brazil and help health managers to improve national public policy on RD in Brazil.

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BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia

Cited by 11 publications

References 19 publications

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

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

Neonatal screening and genotype-phenotype correlation of hyperphenylalaninemia in the Chinese population

Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN)

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