Abstract
The impact of newborn screening for lysosomal disorders in a non-screening adjacent state
Molecular genetics and metabolism, Vol.126(2), pp.S97-S97
02/2019
DOI: 10.1016/j.ymgme.2018.12.243
Abstract
As other states have added Lysosomal Storage Disorderls (LSDs) to their newborn screening (NBS) programs, some families have crossed borders and sought confirmatory testing and follow-up care in Iowa. With the addition of Pompe disease and Mucopolysaccharidosis type I (MPS I) to the Recommended Uniform Screening Panel (RUSP) in 2013 and 2015, respectively, states in the Midwest (including Missouri, Illinois, Minnesota, Wisconsin, and Nebraska) have begun screening for a variety of LSDs. While Iowa does not presently screen for LSDs on NBS, four children have come to our genetics clinic for second tier testing based on positive Fabry disease Illinois NBS results. Three males from Illinois with A143T GLA mutations were seen in our clinic for follow-up NBS testing. Two of these were siblings for familial mutation analysis and the third needed confirmatory testing for Fabry disease and subsequent familial analysis for at-risk members. We now follow the three boys and five additional positive family members. Another male infant was referred to us by his primary care provider for a presumptive positive Fabry NBS. The child and subsequently his mother were found to have a c.1072_1074del mutation in the GLA gene. Mutation analysis is pending on additional family members. A Fabry family identified by Missouri newborn screening on a male child relocated to Iowa and is now in our care. Since moving to Iowa they have had two additional children, both with Fabry disease. Two children with MPS 1 pseudodeficiencies, one confirmed and one pending confirmation, were sent to us from Illinois for second tier testing. As the number of LSD patients identified through NBS increases due to surrounding states, we will adapt our clinic processes to incorporate the influx of patients and their families. This experience will prove valuable if and when Iowa begins NBS for LSDs.
Details
- Title: Subtitle
- The impact of newborn screening for lysosomal disorders in a non-screening adjacent state
- Creators
- Samantha MarcellusLauren JordanAlpa SidhuMyrl HolidaJohn Bernat
- Resource Type
- Abstract
- Publication Details
- Molecular genetics and metabolism, Vol.126(2), pp.S97-S97
- Publisher
- Elsevier Inc
- DOI
- 10.1016/j.ymgme.2018.12.243
- ISSN
- 1096-7192
- eISSN
- 1096-7206
- Language
- English
- Date published
- 02/2019
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics
- Record Identifier
- 9984354381802771
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