Algorithm for Pompe disease newborn screening: results from the Taiwan screening program

Molecular Genetics and Metabolism
Shu-Chuan ChiangYin-Hsiu Chien

Abstract

Pompe disease is caused by a deficiency in acid α-glucosidase (GAA) and results in progressive, debilitating, and often life-threatening symptoms. Newborn screening has led to the early diagnosis of Pompe disease, but the best algorithm for screening has not yet been established. GAA and neutral α-glucosidase (NAG) activities in dried blood spots (DBSs) were assayed using 4-methylumbelliferyl-β-d-glucopyranoside as the substrate. We also measure α-galactosidase A (GLA) activity in DBSs for comparison. A total of 473,738 newborns were screened for Pompe disease, and the data were analyzed retrospectively to determine the best screening algorithm. The fluorescence assay used in the screening possessed good reproducibility, but the NAG/GAA ratio was superior in separating the true-positive from the false-positive cases. An NAG/GAA cutoff ratio≥60 produces a positive predictive value (PPV) of 63.4%, and in our sample, only two cases of later-onset Pompe disease would have been missed. The GLA/GAA ratio is not as effective as the NAG/GAA ratio. A suitable control enzyme can improve the performance of newborn screening. Newborn screening for Pompe disease can be performed using the NAG/GAA ratio as a cutoff even in the presence of GA...Continue Reading

References

Sep 6, 2000·Lancet·H Van den HoutA T Van der Ploeg
Jul 15, 2006·Clinical Chemistry·Emma Parkinson-LawrenceDoug A Brooks
Jul 24, 2007·Neuromuscular Disorders : NMD·Wolfgang Müller-FelberBenedikt Schoser
Mar 17, 2009·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Marc NicolinoPriya S Kishnani
Jan 19, 2010·Molecular Genetics and Metabolism·Paul LabrousseWuh-Liang Hwu
Jan 15, 2011·The Journal of Pediatrics·Yin-Hsiu ChienWuh-Liang Hwu

❮ Previous
Next ❯

Citations

Feb 12, 2014·Clinica Chimica Acta; International Journal of Clinical Chemistry·Hsuan-Chieh LiaoYann-Jang Chen
Jul 20, 2014·Neurologic Clinics·Majed DasoukiMazen M Dimachkie
Apr 9, 2014·Journal of Inherited Metabolic Disease·Bryan Winchester
Feb 9, 2013·Italian Journal of Pediatrics·Francesca SantamariaGiancarlo Parenti
May 2, 2013·Pediatrics and Neonatology·Yin-Hsiu ChienNi-Chung Lee
Sep 16, 2015·Molecular Genetics and Metabolism·Paul T McIntoshPriya Kishnani
Jan 22, 2014·Clinica Chimica Acta; International Journal of Clinical Chemistry·Tze-Kiong ErYuh-Jyh Jong
Dec 4, 2013·Critical Reviews in Clinical Laboratory Sciences·Chloe Miu MakChing-Wan Lam
Apr 22, 2015·Seminars in Perinatology·Dietrich MaternSilvia Tortorelli
May 17, 2015·Seminars in Perinatology·Bradford L TherrellJohn Adams
May 20, 2015·Best Practice & Research. Clinical Endocrinology & Metabolism·Sandra D K KingmaFrits A Wijburg
Aug 3, 2014·Molecular Genetics and Metabolism·Priya S KishnaniJoan Keutzer
Apr 6, 2017·Jornal brasileiro de pneumologia : publicaça̋o oficial da Sociedade Brasileira de Pneumologia e Tisilogia·Bruna de Souza SixelJuan Clinton Llerena
Nov 3, 2017·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Silvia TortorelliPiero Rinaldo
Dec 6, 2014·Clinical Chemistry·Michael H GelbFrantisek Turecek
Apr 5, 2019·Orphanet Journal of Rare Diseases·Yuying ZhaoChuanzhu Yan
Nov 21, 2017·Translational Science of Rare Diseases·Carlos R Ferreira, William A Gahl
Oct 20, 2020·International Journal of Neonatal Screening·Hao TangRichard S Olney
Oct 20, 2020·International Journal of Neonatal Screening·Wuh-Liang Hwu, Yin-Hsiu Chien
Jul 18, 2018·International Journal of Neonatal Screening·David S Millington, Deeksha S Bali
Oct 20, 2020·International Journal of Neonatal Screening·Tracy L KlugJami L Kiesling
Oct 20, 2020·International Journal of Neonatal Screening·Takaaki SawadaKimitoshi Nakamura
Dec 8, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·John S RichardsonLisa A Prosser
Oct 31, 2020·International Journal of Neonatal Screening·Joan M Keutzer
Nov 6, 2020·International Journal of Neonatal Screening·Sabrina MalvagiaGiancarlo la Marca
Feb 10, 2021·International Journal of Neonatal Screening·Wuh-Liang Hwu, Yin-Hsiu Chien
Feb 10, 2021·International Journal of Neonatal Screening·Hao TangRichard S Olney
Feb 10, 2021·International Journal of Neonatal Screening·Tracy L KlugJami L Kiesling
Nov 27, 2020·International Journal of Neonatal Screening·Joan M Keutzer

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cardiomyopathy

Cardiomyopathy is a disease of the heart muscle, that can lead to muscular or electrical dysfunction of the heart. It is often an irreversible disease that is associated with a poor prognosis. There are different causes and classifications of cardiomyopathies. Here are the latest discoveries pertaining to this disease.