New Newborn Screening Approach Allows for Earlier Detection of Menkes Disease
New Newborn Screening Approach Allows for Earlier Detection of Menkes Disease https://pediatricsnationwide.org/wp-content/uploads/2021/03/AdobeStock_115709904_HRBW-web-1024x575.gif 1024 575 Natalie Wilson https://pediatricsnationwide.org/wp-content/uploads/2021/06/Natalieheadshot3-2.png
Targeted next generation DNA sequencing can enable improved clinical outcomes for any genetic disorder not detectable through other biochemical newborn screening methods. Menkes disease is a rare, X-linked recessive pediatric disease caused by gene mutations of the copper transporter gene, ATP7A, leading to low levels of copper in infants’ blood and brain, as well as abnormal…
read more