Researchers identify new disorder of copper metabolism, caused by variants in CTR1 gene

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 disease and Menkes disease result from mutations in the copper-transporting P-type ATPases; ATP7B and ATP7A, respectively.