Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives

International Journal of Neonatal Screening
Francyne KubaskiRoberto Giugliani

Abstract

Newborn screening enables the diagnosis of treatable disorders at the early stages, and because of its countless benefits, conditions have been continuously added to screening panels, allowing early intervention, aiming for the prevention of irreversible manifestations and even premature death. Mucopolysaccharidoses (MPS) are lysosomal storage disorders than can benefit from an early diagnosis, and thus are being recommended for newborn screening. They are multisystemic progressive disorders, with treatment options already available for several MPS types. MPS I was the first MPS disorder enrolled in the newborn screening (NBS) panel in the USA and a few other countries, and other MPS types are expected to be added. Very few studies about NBS for MPS in Latin America have been published so far. In this review, we report the results of pilot studies performed in Mexico and Brazil using different methodologies: tandem mass spectrometry, molecular analysis, digital microfluidics, and fluorimetry. These experiences are important to report and discuss, as we expect to have several MPS types added to NBS panels shortly. This addition will enable timely diagnosis of MPS, avoiding the long diagnostic odyssey that is part of the current ...Continue Reading

References

May 23, 2006·Clinica Chimica Acta; International Journal of Clinical Chemistry·Gabriel CivalleroRoberto Giugliani
Aug 19, 2007·Journal of Inherited Metabolic Disease·G J C Borrajo
Jun 12, 2008·American Journal of Medical Genetics. Part a·Taiane VieiraRoberto Giugliani
Apr 3, 2009·Nucleic Acids Research·François-Olivier DesmetChristophe Béroud
Apr 1, 2010·Nature Methods·Ivan A AdzhubeiShamil R Sunyaev
Oct 15, 2011·Molecular Genetics and Metabolism·Fabiana Moura Costa-MottaSandra Leistner-Segal
May 9, 2012·Annual Review of Genomics and Human Genetics·Beth A Tarini, Aaron J Goldenberg
Sep 24, 2013·Orphanet Journal of Rare Diseases·Shuan-Pei LinChih-Kuang Chuang
Nov 26, 2013·JIMD Reports·G J G RuijterA J Reuser
Apr 1, 2014·Nature Methods·Jana Marie SchwarzDominik Seelow
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
May 17, 2015·Seminars in Perinatology·Bradford L TherrellJohn Adams
Oct 9, 2016·Journal of Inherited Metabolic Disease·Francyne KubaskiShunji Tomatsu
Mar 18, 2017·Molecular Genetics and Metabolism·Juana Inés Navarrete-MartínezDavid Eduardo Cervantes-Barragán
Jul 20, 2017·Molecular Genetics and Metabolism Reports·Heydy BravoRoberto Giugliani
Nov 17, 2017·Journal of Inherited Metabolic Disease·Alberto B BurlinaAlessandro P Burlina
May 29, 2018·Orphanet Journal of Rare Diseases·Chih-Kuang ChuangShuan-Pei Lin
Jun 6, 2018·Genetics and Molecular Biology·Eurico Camargo NetoRoberto Giugliani
Jun 10, 2018·Molecular Genetics and Metabolism·C P HowsonE R B McCabe
Aug 21, 2018·Current Opinion in Pediatrics·Bradford L Therrell, Carmencita D Padilla
Nov 18, 2018·Italian Journal of Pediatrics·Maria Alice DonatiAlberto Burlina
Apr 9, 2019·International Journal of Neonatal Screening·Michael H GelbPeter C J I Schielen
Apr 16, 2019·Genetics and Molecular Biology·Roberto GiuglianiFrancyne Kubaski
Apr 16, 2019·Genetics and Molecular Biology·Ana Carolina Brusius-FacchinSandra Leistner-Segal
Sep 4, 2019·The Journal of Pediatrics·Barbara K BurtonKhaja Basheeruddin
May 21, 2020·Clinical Chemistry and Laboratory Medicine : CCLM·Giulia PoloAlberto B Burlina
Jun 2, 2020·Genetics and Molecular Biology·Fernanda BenderRoberto Giugliani
Jul 22, 2020·Critical Reviews in Clinical Laboratory Sciences·Yolanda González-IrazabalEduardo Martínez-Morillo
Jun 21, 2019·International Journal of Neonatal Screening·Alberto B BurlinaAlessandro P Burlina
Oct 20, 2020·International Journal of Neonatal Screening·Dawn S PeckSilvia Tortorelli
Oct 20, 2020·International Journal of Neonatal Screening·Yvonne Kellar-GuentherJelili Ojodu
Oct 30, 2020·International Journal of Neonatal Screening·Barbara K BurtonLauren Hitchins
Nov 27, 2020·International Journal of Neonatal Screening·Elizabeth G AmesAyesha Ahmad
Nov 27, 2020·International Journal of Neonatal Screening·Barbara K BurtonLauren Hitchins
Feb 10, 2021·International Journal of Neonatal Screening·Dawn S PeckSilvia Tortorelli

❮ Previous
Next ❯

Citations


❮ Previous
Next ❯

Methods Mentioned

BETA
enzyme replacement therapy
PCR

Software Mentioned

Integrative Genomics Viewer ( IGV )
Ion
Mutation Taster
Ion Torrent Suite
Human Splice Finder
Ion Reporter (

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

© 2021 Meta ULC. All rights reserved