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Diagnosing X-Linked Adrenoleukodystrophy after Implementation of Newborn Screening: A Reference Laboratory
Julia Prinzi1, Marzia Pasquali2,3,4, Judith A Hobert2,3
1Department of Human Genetics, Graduate Program in Genetic Counseling, University of Utah, Salt Lake City, UT 84112, USA.
International Journal of Neonatal Screening
|November 21, 2023
Summary
Newborn screening (NBS) for Adrenoleukodystrophy (ALD) significantly increased early detection of ALDP deficiency. This allows for younger diagnoses, enabling timely intervention to prevent severe outcomes like adrenal crisis and cerebral ALD.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Adrenoleukodystrophy (ALD) results from ABCD1 gene variants, impairing peroxisomal beta-oxidation of very long-chain fatty acids (VLCFA).
- Childhood cerebral ALD (CCALD) is a severe, lethal phenotype requiring early intervention, often hematopoietic stem cell transplant.
- Newborn screening (NBS) for ALD has been implemented in 35 US states, but its overall impact on early detection requires further evaluation.
Purpose of the Study:
- To assess the impact of NBS implementation on the early detection of ALD.
- To analyze changes in detection rates, age at diagnosis, and sex distribution of ALD patients before and after NBS.
- To evaluate the effectiveness of NBS in identifying ALDP deficiency pre-symptomatically.
Main Methods:
- Retrospective analysis of VLCFA testing data from a reference laboratory over a 10-year period.
- Comparison of ALD detection rates, age at diagnosis, and male-to-female ratios before and after NBS implementation.
- Statistical evaluation of observed differences in patient cohorts.
Main Results:
- A significant increase in abnormal ALD test results was observed after NBS implementation (6.8% vs. 3.3%).
- Patients identified through NBS were diagnosed at a significantly younger age (median 30 days vs. 21 years).
- Males and females were equally represented in the NBS-identified cohort.
Conclusions:
- ALD inclusion in NBS programs has substantially improved pre-symptomatic detection rates.
- Early detection via NBS is crucial for preventing adrenal crisis and the severe cerebral form of ALD.
- NBS facilitates timely intervention, improving outcomes for individuals with ALDP deficiency.
