Newborn screening for lysosomal storage disorders

Matern, Dietrich; Gavrilov, Dimitar; Oglesbee, Devin; Raymond, Kimiyo; Rinaldo, Piero; Tortorelli, Silvia

doi:10.1053/j.semperi.2015.03.005

Cited by 97 publications

(65 citation statements)

References 75 publications

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“…Increasingly, interest has focused on NBS for Pompe disease since it has now been recommended by the SACHDNC. Potential screening algorithms for the LSDs are discussed elsewhere in this issue, 41 and pilot data from Missouri has been published. 42 Although X-linked adrenoleukodystrophy (X-ALD) is not yet a part of the RUSP, a screening test has been developed and NSB for X-ALD is now required in New York Connecticut, and California, a pilot already having been completed in New York.…”

Section: North Americamentioning

confidence: 99%

Current status of newborn screening worldwide: 2015

Therrell

Padilla

Loeber³

et al. 2015

Seminars in Perinatology

464

418

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Section: North Americamentioning

confidence: 99%

Current status of newborn screening worldwide: 2015

Therrell

Padilla

Loeber³

et al. 2015

Seminars in Perinatology

464

418

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“…Currently Missouri, Illinois, New York, Kentucky, Mississippi, Ohio, Pennsylvania and Tennessee are screening for Pompe disease and many additional states are gearing towards this goal [10]. Newborn screening (NBS) has led to early diagnosis and early initiation of treatment for IOPD, as intended.…”

Section: Introductionmentioning

confidence: 99%

Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T > G “late-onset” GAA variant

Rairikar

Case

Bailey

et al. 2017

Molecular Genetics and Metabolism

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Objective Newborn screening (NBS) has led to early diagnosis and early initiation of treatment for infantile onset Pompe Disease (IOPD). However, guidelines for management of late onset Pompe disease (LOPD) via NBS, especially with the IVS c.-32-13T>G are not clear. This IVS variant is noted in 68–90% cases with LOPD and has been presumed to result in “adult” disease in compound heterozygosity, with a few cases with earlier onset and a mild to no phenotype in homozygosity. Our study evaluates newborns with LOPD having IVS variant with a diligent multidisciplinary approach to determine if they have an early presentation. Methods Seven children with LOPD identified by NBS with IVS variant (3 compound heterozygous, and 4 homozygous) were evaluated with clinical, biochemical (CK, AST, ALT, and urinary Glc4), cardiac evaluation, physical therapy (PT), occupational, and speech/language therapy. Results All seven patients demonstrated motor involvement by age 6 months; the three patients with c.-32-13 T>G variant in compound heterozygosity had symptoms as neonates. Patients with c.-32-13 T>G variant in compound heterozygosity had more involvement with persistent hyperCKemia, elevated AST and ALT, swallowing difficulties, limb-girdle weakness, delayed motor milestones, and were initiated on ERT. The patients with c.-32-13T>G variant in homozygosity had normal laboratory parameters, and presented with very subtle yet LOPD specific signs, identified only by meticulous assessments. Conclusion This patient cohort represents the first carefully phenotyped cohort of infants with LOPD with the “late-onset” GAA variant c.-32-13T>G detected by NBS in the USA. It emphasizes not only the opportunity for early detection of skeletal and other muscle involvement in infants with c.-32-13T>G variant but also a high probability of overlooking or underestimating the significance of clinically present and detectable features. It can thus serve as a valuable contribution in the development of evaluation and treatment algorithms for infants with LOPD.

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“…MPS I NBS via determination of IDUA activity in dried blood spot (DBS)-derived samples is currently underway in the US 15,16 and in pilot programs in Taiwan, 17 Italy, 18 Austria, 19 and Hungary. 19 The US Department of Health and Human Services recommended uniform screening panel 20 Limited Ability to Define Disease Severity is an Inherent Challenge for MPS I NBS Given the wide clinical spectrum of MPS I and the differences in therapy based on subtype, the precise determination of where a patient fits in the broad spectrum of disease is essential. It is important to note that no currently available biochemical criteria can reliably distinguish phenotypes.…”

mentioning

confidence: 99%