Dataset and standard operating procedure for newborn screening of six lysosomal storage diseases: By tandem mass spectrometry

Elliott, Susan; Buroker, Norman E.; Cournoyer, Jason J.; Potier, Anna; Trometer, Joseph D.; Elbin, Carole; Schermer, Mack; Kantola, Jaana; Boyce, A. J.; Tureček, František; Gelb, Michael H.; Scott, C. Ronald

doi:10.1016/j.dib.2016.06.052

Cited by 15 publications

(15 citation statements)

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“…In FD, the correct risk stratification based on an understanding of the genotype and phenotype relationship is an urgent though unmet clinical need. Since FD has become treatable with ERT [2,26] and more recently with further treatment strategies [27][28][29][30], there is increasing awareness of FD among primary care physicians and different specialists, and systematic screening among high-risk populations [31][32][33] and newborns [34] has become more frequent. This has resulted in increased detection of mutations with unknown clinical relevance [35,36].…”

Section: Discussionmentioning

confidence: 99%

Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease

Nowak

Mechtler²,

Hornemann

et al. 2018

Molecular Genetics and Metabolism

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BackgroundFabry disease (FD) is a rare X-linked lysosomal storage disease caused by mutations in the α-galactosidase A (GLA) gene causing deficiency of α-galactosidase A which results in progressive glycosphingolipid accumulation, especially globotriaosylceramide (Gb3), in body liquids and lysosomes. In a large cohort of FD patients, we aimed to establish genotype/phenotype relations as indicated by serum LysoGb3 (deacylated Gb3). MethodsIn 69 consecutive adult FD patients (males: n=28 (41%)) with a GLA-mutation confirmed diagnosis, we conducted a multidisciplinary clinical characterization during their routine annual examinations, and measured serum LysoGb3 levels by highsensitive electrospray ionization liquid chromatography tandem mass spectrometry. ResultsSerum levels of LysoGb3 were significantly higher in Classic compared with LaterOnset phenotype and higher in the latter compared with controls, both in males (52

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Section: Discussionmentioning

confidence: 99%

Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease

Nowak

Mechtler²,

Hornemann

et al. 2018

Molecular Genetics and Metabolism

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“…In a clinical study, combination therapy of early ERT and hematopoietic stem cell transplantation, ideally before 17 months of age, is recommended to improve prognoses, including nervous and cardiac system symptoms (Whitley et al 1993;Kato et al 2016). Based on this trial, additional trials of newborn screening for detecting MPS type I have started in the USA (Elliott et al 2016). The hypothesis of lysosomal substrate accumulation due to lysosomal dysfunction resulting from the inflammatory response has been reported.…”

Section: Discussionmentioning

confidence: 99%

P-Tau and Subunit c Mitochondrial ATP Synthase Accumulation in the Central Nervous System of a Woman with Hurler–Scheie Syndrome Treated with Enzyme Replacement Therapy for 12 Years

et al. 2018

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We report an autopsy case of a woman with mucopolysaccharidosis type I (MPS I) Hurler-Scheie syndrome who was treated with enzyme replacement therapy (ERT) for 12 years. This was the first case of MPS I treated with ERT in Japan. Pathological analysis showed no glycosaminoglycan accumulation in the liver and spleen as a result of long-term ERT, although severe aortic stenosis, diffuse intimal hyperplasia of the coronary artery, and fibrous hypertrophy of the endocardium were observed. Additionally, we detected subunit c mitochondrial ATP synthase (SCMAS) accumulation and mild tauopathy (hyperphosphorylated tau or p-tau, both 3-repeat and 4-repeat tau accumulation) in the same area of the cerebral limbic system and central gray matter of the mid brain and pons. Tauopathy is an important pathological finding in Alzheimer's disease and other neurodegenerative disorders; however, in MPS I, it is unclear whether tauopathy is a primary or secondary phenomenon. Thus, in this report, we describe pathological accumulation of p-tau and SCMAS in the context of MPS I and discuss the mechanisms and importance of these findings in the pathogenesis of MPS I.

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“…Therefore, we have developed a ratiometric assay to exclude pseudodeficiency newborns from referrals [5]. Transforming the screening assay from a manual fluorometric method to microfluidic or MS/MS partially solves but does not eliminate the problem [9][10][11][12][13]. In addition, those studies were conducted in populations different from ours, where the pseudodeficiency allele is prevalent in Asians.…”

Section: Discussionmentioning

confidence: 99%

Performance of the Four-Plex Tandem Mass Spectrometry Lysosomal Storage Disease Newborn Screening Test: The Necessity of Adding a 2nd Tier Test for Pompe Disease

Chiang

Chen

Hwu

et al. 2018

IJNS

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Early diagnosis of lysosomal storage diseases (LSDs) through newborn screening (NBS) has been adapted widely. The National Taiwan University Hospital Newborn Screening Center launched the four-plex tandem mass spectrometry LSD newborn screening test in 2015. The test determined activities of acid α-glucosidase (GAA; Pompe), acid α-galactosidase (GLA; Fabry), acid β-glucocerebrosidase (ABG; Gaucher), and acid α-l-iduronidase (IDUA; MPS-I) in dried blood spots (DBS). Through 2017, 64,148 newborns were screened for these four LSDs. The screening algorithm includes enzyme activity/ratio as the cutoffs for the first screening test and a second-tier test for Pompe disease screening. The second-tier Pompe disease screening test measured activity inhibition by acarbose. Twenty-nine newborns required a confirmatory test; six were confirmed to have Pompe disease, and nine were confirmed to have Fabry disease. The screen-positive rate for Pompe disease was 0.031%. Therefore, in Pompe disease newborn screening, a validated 2nd tier test is necessary to decrease false positives.

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Dataset and standard operating procedure for newborn screening of six lysosomal storage diseases: By tandem mass spectrometry

Cited by 15 publications

References 1 publication

Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease

Genotype, phenotype and disease severity reflected by serum LysoGb3 levels in patients with Fabry disease

P-Tau and Subunit c Mitochondrial ATP Synthase Accumulation in the Central Nervous System of a Woman with Hurler–Scheie Syndrome Treated with Enzyme Replacement Therapy for 12 Years

Performance of the Four-Plex Tandem Mass Spectrometry Lysosomal Storage Disease Newborn Screening Test: The Necessity of Adding a 2nd Tier Test for Pompe Disease

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