Newborn Screening for X-Linked Adrenoleukodystrophy: Past, Present, and Future.

Ann B Moser,Gerald V Raymond,Elisa Seeger

doi:10.3390/ijns8010016

Abstract

Newborn screening for X-linked adrenoleukodystrophy began in New York in 2013. Prior to this start, there was already significant information on the diagnosis and monitoring of asymptomatic individuals. Methods needed to be developed and validated for the use of dried blood spots. Following its institution in New York, its acceptance as a disorder on the Recommended Uniform Screening occurred. With it has come published recommendations on the surveillance and care of boys detected by newborn screening. There still remain challenges, but it is hoped that with periodic review, they may be overcome.

Highlights

Upon learning that a method for newborn screening for ALD was available but was not in use, made it their mission to have it implemented in New York
With the establishment in New York, stakeholders petitioned for its inclusion on the Recommended Uniform Screening Panel (RUSP), which occurred in February 2016
Newborn screening for ALD is established in 24 states and the District of Columbia, there remain issues—some expected and some unexpected [3,8,9]

Summary

Introduction

Clinical neurologic disease was preceded by neuroimaging changes This led to the demonstration of the benefit of early intervention using HSCT, prior to advanced disease on MRI [12]. Boys still came to attention with either catastrophic injury from an adrenal crisis or advanced cerebral disease precluding therapy. It was against this background that the first work to establish universal screening for ALD began. A methodology to examine the C26lysophosphatidyl choline fraction from dried blood spots was developed [13,14].

Initiation and Implementation

Discussion

Conclusions