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BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia

Overview of attention for article published in Jornal de Pediatria, March 2018
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Title
BH4 deficiency identified in a neonatal screening program for hyperphenylalaninemia
Published in
Jornal de Pediatria, March 2018
DOI 10.1016/j.jped.2017.04.005
Pubmed ID
Authors

Cezar Antonio Abreu de Souza, Michelle Rosa Andrade Alves, Rosangelis del Lama Soares, Viviane de Cássia Kanufre, Valéria de Melo Rodrigues, Rocksane de Carvalho Norton, Ana Lúcia Pimenta Starling, Marcos José Burle de Aguiar

Abstract

To show the general prevalence and to characterize tetrahydrobiopterin (BH4) deficiencies with hyperphenylalaninemia, identified by the Neonatal Screening Program of the State of Minas Gerais (NSPMG). Descriptive study of patients with BH4 deficiency identified by the NSPMG. The prevalence found was 2.1 for 1,000,000 live births, with a frequency of 1.71% among hyperphenylalaninemias. There were four cases (40%) with 6-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency, three with GTP cyclohydrolase I - autosomal recessive form (GTPCH I) deficiency, and three with dihydropteridine reductase (DHPR) deficiency (30% each). Six patients were diagnosed due to clinical suspicion and four cases due to systematic screening in neonatal screening. After the start of the treatment, patients identified by neonatal screening had rapid improvement and improved neuropsychomotor development compared to those diagnosed by the medical history. The prevalence of BH4 deficiencies in Minas Gerais was slightly higher than that found in the literature, but the frequency among hyperphenylalaninemias was similar. Although rare, they are severe diseases and, if left untreated, lead to developmental delays, abnormal movements, seizures, and premature death. Early treatment onset (starting before 5 months of age) showed good results in preventing intellectual disability, justifying the screening of these deficiencies in newborns with hyperphenylalaninemia identified at the neonatal screening programs for phenylketonuria.

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Mendeley readers

The data shown below were compiled from readership statistics for 6 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 6 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 2 33%
Student > Bachelor 2 33%
Researcher 1 17%
Unknown 1 17%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 2 33%
Medicine and Dentistry 2 33%
Neuroscience 1 17%
Unknown 1 17%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 13 August 2017.
All research outputs
#10,038,105
of 12,546,249 outputs
Outputs from Jornal de Pediatria
#318
of 419 outputs
Outputs of similar age
#194,055
of 263,870 outputs
Outputs of similar age from Jornal de Pediatria
#25
of 33 outputs
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We're also able to compare this research output to 33 others from the same source and published within six weeks on either side of this one. This one is in the 9th percentile – i.e., 9% of its contemporaries scored the same or lower than it.