New Disorder of Copper Metabolism Identified, Caused by Variants in CTR1 Gene
New Disorder of Copper Metabolism Identified, Caused by Variants in CTR1 Gene https://pediatricsnationwide.org/wp-content/uploads/2021/02/AdobeStock_134232290-DNA-header-1024x575.gif 1024 575 Abbie Miller https://pediatricsnationwide.org/wp-content/uploads/2023/05/051023BT016-Abbie-Crop.jpg
A novel missense mutation in identical twins leads to discovery and definition of new inherited disorder of brain copper metabolism. Copper is essential for many cellular functions, including cellular respiration, antioxidant defense, neurotransmitter biosynthesis and neuropeptide amidation, among others. Until recently, only two inborn errors of copper metabolism were well established. Both are rare. Wilson’s…