Metabolomics used in clinical diagnosis related to newborn screening

Neurocognitive and mental health impact of adrenoleukodystrophy across the lifespan: Insights for the era of newborn screening

“…15 As of December 2022, a total of 30 U.S. states and the District of Columbia had begun screening male and female newborns for ALD; most states have been screening for less than 5 years. 16 As more individuals with ALD are identified through NBS and have the opportunity to receive earlier management and treatment, consideration of the long-term neurocognitive and mental health effects of ALD grows increasingly relevant. Along with NBS, improvements in HCT as well as newer treatments (e.g., gene therapy) hold promise to continue to improve the outlook for patients with cerebral ALD.…”

“…The dramatic difference in outcomes associated with earlier treatment, along with advocacy from affected families, prompted the development of NBS programs for ALD and the addition of ALD to the federal Recommended Uniform Screening Panel in 2016 15 . As of December 2022, a total of 30 U.S. states and the District of Columbia had begun screening male and female newborns for ALD; most states have been screening for less than 5 years 16 …”