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A report on state‐wide implementation of newborn screening for X‐linked Adrenoleukodystrophy
- Source :
- American Journal of Medical Genetics. Part a
- Publication Year :
- 2019
- Publisher :
- John Wiley & Sons, Inc., 2019.
-
Abstract
- Minnesota became the fourth state to begin newborn screening (NBS) for X‐linked adrenoleukodystrophy (X‐ALD) in 2017. As there is limited retrospective data available on NBS for X‐ALD, we analyzed Minnesota's NBS results from the first year of screening. C26:0 lysophosphatidylcholine (C26:0‐LPC) screening results of 67,836 infants and confirmatory testing (ABCD1 gene and serum VLCFA analysis) for screen positives were obtained. Fourteen infants (nine males, five females) screened positive for X‐ALD and all were subsequently confirmed to have X‐ALD, with zero false positives. The birth prevalence of X‐ALD in screened infants was 1 in 4,845 and 1 in 3,878 males, more than five times previous reported incidences. Pedigrees of affected infants were analyzed, and 17 male (mean age of 17) and 24 female relatives were subsequently diagnosed with X‐ALD. Phenotypes of these family members included self‐reported mild neuropathy symptoms in two males and seven females, and childhood cerebral disease (ccALD) and adrenal insufficiency in one male. We observed fewer cases of ccALD and adrenal insufficiency than expected in male family members (5.9% of males for both) compared to previous observations. Together, these findings suggest that the spectrum of X‐ALD may be broader than previously described and that milder cases may previously have been underrepresented. Other challenges included a high frequency of variants of uncertain significance in ABCD1 and an inability to predict phenotypic severity. We posit that thoughtful planning to address these novel challenges and coordination by dedicated specialists will be imperative for successful implementation of population‐based screening for X‐ALD.
- Subjects :
- Male
Pediatrics
Gene Expression
Pedigree chart
Disease
ATP Binding Cassette Transporter, Subfamily D, Member 1
Severity of Illness Index
False positive paradox
X‐linked adrenoleukodystrophy
Adrenoleukodystrophy
Child
Genetics (clinical)
education.field_of_study
Incidence (epidemiology)
Incidence
Fatty Acids
Middle Aged
Pedigree
Phenotype
Child, Preschool
Original Article
Female
adrenal insufficiency
Adult
endocrine system
medicine.medical_specialty
Adolescent
Minnesota
Population
prevalence
Neonatal Screening
Genetics
medicine
Adrenal insufficiency
Humans
Family
education
Aged
Newborn screening
business.industry
ABCD1
Infant, Newborn
Infant
Lysophosphatidylcholines
Original Articles
medicine.disease
Mutation
business
newborn screen
Subjects
Details
- Language :
- English
- ISSN :
- 15524833 and 15524825
- Volume :
- 179
- Issue :
- 7
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics. Part a
- Accession number :
- edsair.doi.dedup.....e29ff9e9cd5a0de89327b05539fc177a