Detecting multiple lysosomal storage diseases by tandem mass spectrometry — A national newborn screening program in Taiwan

Liao, Hsuan Chieh; Chiang, Chuan Chi; Niu, Dau Ming; Wang, Chung Hsing; Kao, Shu Min; Tsai, Fuu Jen; Huang, Yu-Ren; Liu, Hao Chuan; Huang, Chun Kai; Gao, He Jin; Yang, Chia Feng; Chan, Min Ju; Lin, Wei; Chen, Yann Jang

doi:10.1016/j.cca.2014.01.030

Cited by 103 publications

(78 citation statements)

References 39 publications

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“…155 Additional pilot studies in the region for other LSDs (Niemann-Pick A/B, Krabbe, Gaucher, Fabry, and Hurler syndrome) have been reported. [156][157][158][159] Other conditions for which there have been ongoing NBS pilot studies include citrin deficiency, 160 SCID, 161 Fragile-X syndrome, 162 X-ALD, 44 and Wilson's disease. 163 Currently, Taiwan is the only country in the region that includes both Pompe disease and SCID in the national panel of conditions.…”

Section: Asia Pacificmentioning

confidence: 98%

Current status of newborn screening worldwide: 2015

Therrell

Padilla

Loeber³

et al. 2015

Seminars in Perinatology

441

418

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Section: Asia Pacificmentioning

confidence: 98%

Current status of newborn screening worldwide: 2015

Therrell

Padilla

Loeber³

et al. 2015

Seminars in Perinatology

441

418

View full text Add to dashboard Cite

“…At one of the centers, the fluorescent assay was discontinued and a tandem mass spectrometry assay was utilized; the results of this study were published in 2014 [24]. A paper published in 2011 indicated that 19 of 344,056 infants screened in the years 2005-2009 were confirmed to have Pompe disease [25].…”

Section: Newborn Screeningmentioning

confidence: 99%

Newborn Screening for Krabbe Disease and Other Lysosomal Storage Disorders: Broad Lessons Learned

Orsini

Casini

2017

IJNS

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Newborn screening (NBS) for Krabbe disease (KD) began in New York (NY) in August 2006. In summary, after eight years of screening there were five infants identified with early-onset Krabbe disease. Four underwent transplant, two are surviving with moderate to severe handicaps, and two died from transplant-related complications. An additional forty-six asymptomatic infants were found to be at moderate or high risk for disease. Screening for KD is both analytically and medically challenging; since screening for KD possesses both of these challenges, and many more, the lessons learned thus far could be used to predict the challenges that may be faced when screening for other lysosomal storage disorders (LSDs). This paper briefly reviews reports of NBS for LSDs from varied world programs. The challenges encountered in screening for KD in NY will be highlighted, and this experience, combined with hindsight, will inform what may be expected in the future as screening for LSDs expands.

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“…Several MPS-subtypes have specific enzyme replacement therapy available, and there are many indications that MPS patients treated at an early age do better than those treated later in life (Auclair et al, 2003;McGill et al, 2010;Gabrielli et al, 2010;Schulze-Frenking et al, 2011;Baldo et al, 2013;Poe et al, 2014;Muenzer J, 2014;Tomatsu et al, 2016). Newborn screening programs for MPSs using dried blood spots (DBS) were proposed in 2001 and highthroughput technologies such as tandem mass spectrometry (MS/MS) are now under investigation (Meikle et al, 2006;Gelb et al, 2006;Wolfe et al, 2011;de Ruijter et al, 2012;Spacil et al, 2013;Scott et al, 2013;Lin et al, 2013;Tomatsu et al, 2013;Shimada et al, 2014a;Liao et al, 2014;Gucciardi et al, 2014;Ruijter et al, 2014;Gelb et al, 2015;Hopkins et al, 2015). Methods currently under development include assays for activity of deficient enzymes (Gelb et al, 2015;Hopkins et al, 2015), measurement of accumulated GAGs (Oguma et al, 2007;Tomatsu et al, 2013;Lawrence et al, 2012Lawrence et al, , 2014.…”

Section: Introductionmentioning

confidence: 99%