Newborn Screening for Lysosomal Storage Disorders in Hungary

Wittmann, Judit; Karg, Eszter; Túri, Sándor; Legnini, Elisa; Wittmann, Gyula; Giese, Anne-Katrin; Lukáš, Jan; Gölnitz, Uta; Klingenhäger, Michael; Bodamer, Olaf A.; Mühl, Adolf; Rolfs, Arndt

doi:10.1007/8904_2012_130

Cited by 78 publications

(73 citation statements)

References 46 publications

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“…Newborn screening studies in Europe and in Taiwan revealed a significantly higher prevalence of FD (as high as 1 in 1250) than was expected based on previous calculations 8–11 76 77. In two Taiwanese studies, 100/120 (83%) identified individuals showed an intronic variance of uncertain significance, IVS4+919G>A. Hwu et al demonstrated 3.6–28.5% residual leukocyte enzyme activity in men 10.…”

Section: Discussionmentioning

confidence: 86%

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A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance

et al. 2013

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Screening for Fabry disease (FD) reveals a high prevalence of individuals with α-galactosidase A (GLA) genetic variants of unknown significance (GVUS). These individuals often do not express characteristic features of FD. A systematic review on FD screening studies was performed to interpret the significance of GLA gene variants and to calculate the prevalence of definite classical and uncertain cases. We searched PubMed and Embase for screening studies on FD. We collected data on screening methods, clinical, biochemical and genetic assessments. The pooled prevalence of identified subjects and those with a definite diagnosis of classical FD were calculated. As criteria for a definite diagnosis, we used the presence of a GLA variant, absent or near-absent leukocyte enzyme activity and characteristic features of FD. Fifty-one studies were selected, 45 in high-risk and 6 in newborn populations. The most often used screening method was an enzyme activity assay. Cut-off values comprised 10-55% of the mean reference value for men and up to 80% for women. Prevalence of GLA variants in newborns was 0.04%. In high-risk populations the overall prevalence of individuals with GLA variants was 0.62%, while the prevalence of a definite diagnosis of FD was 0.12%. The majority of identified individuals in high-risk and newborn populations harbour GVUS or neutral variants in the GLA gene. To determine the pathogenicity of a GVUS in an individual, improved diagnostic criteria are needed. We propose a diagnostic algorithm to approach the individual with an uncertain diagnosis.

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Section: Discussionmentioning

confidence: 86%

“…Two studies that were labelled as ‘other’ were performed in persons with migraine, and premature atherosclerotic males, respectively 74 75. Six studies on newborn screening were included 8–11 76 77…”

Section: Resultsmentioning

confidence: 99%

A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance

et al. 2013

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“…25,26 The switch to MS/MS was possible because, in collaboration with Chamoles, Michael Gelb, C. Ronald Scott, and others developed enzyme-specific substrates, synthesized isotopically labeled substrates, and measured the products of various enzyme reactions simultaneously in DBS with MS/ MS. 27 Since the first description of their Flow Injection Analysis (FIA) MS/MS assay, modifications including the number of enzymes, sample preparation steps, and the addition of liquid chromatography (LC) have been reported and applied in both limited studies and routine NBS. [28][29][30][31][32][33][34][35][36][37][38][39] Another analytical multiplex approach to NBS for LSDs, also based on Chamoles' fluorometric enzyme activity assays, was developed by Advanced Liquid Logic, Inc. (ALL; now called Baebies Inc.). 40 Their procedure has the ability to simultaneously perform up to 5 different enzyme assays on a single DBS.…”

Section: Newborn Screening Assays For Lsdsmentioning

confidence: 99%

Newborn screening for lysosomal storage disorders

Matern

Gavrilov

Oglesbee

et al. 2015

Seminars in Perinatology

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“…In addition to live screening, there have been multiple reports of retrospective pilot studies to screen for LSDs [29][30][31]. In these studies, samples that screen positive, biochemically, for a given LSD are genotyped.…”

Section: Missouri Lsd Screeningmentioning

confidence: 99%

“…However, we came to understand that infants with a common genotype containing the p.Thr112Ala mutation without p.Ile562Thr (legacy: p.Ile546Thr) in cis were not at risk for KD [38], and as of November, 2015 infants carrying this GALC variant were no longer referred [3]. Similarly, DNA testing for GAA mutations has identified a high number of cases with the p.Val222Met variant and this variant was reported at a fairly high frequency in retrospective screening of dried blood spots for Pompe disease in Hungary [29], yet there is no knowledge that this variant is disease-causing.…”

Section: Second-tier Molecular Testingmentioning

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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Newborn Screening for Lysosomal Storage Disorders in Hungary

Abstract: Even though lysosomal storage disorders (LSDs)

Cited by 78 publications

References 46 publications

A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance

A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance

Newborn screening for lysosomal storage disorders

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

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