Copper metabolism disorders are way beyond Wilson and Menke’s disease alone.
Knowledge of players in normal cooper metabolism and transport helps us in identifying breaks at various levels and consequent pathologic diseases1
Copper homeostatsis in body- Below is schema of absorbtion and excretion of copper / copper handling in normal metabolism in human body
12. Cellular copper transport and metabolism
® Step 1. Uptake of Copper (Cuprous ions) from plasma into cells via human Copper transporter 1 (hCTR1)
® Step 2. Binding of copper to intracellular copper binding proteins i.e. Glutathione and Metallothioneins
® Step 3. Activation of copper requiring intracellular enzymes via copper chaperones (COX17, ATOX1 and CCS) into trans Golgi network (TGN) via ATP7A membrane transporter at low copper concentrations.
® Step 4. Transport of copper outside the cells after incorporating into ceruloplasmin i.e. conversion of apoceruloplasmin into ceruloplasmin via ATP 7A (other body cells) or ATP 7B (Hepatocytes) when intracellular copper concentration is in excess.
Copper containing enzymes in body
4. Disorders of copper metabolism and transport - Inherited copper metabolism disorders (Defect at various levels of cellular copper homeostasis gives rise to various defects/ diseases- Beyond Wilson and Menke’s disease)
So, I hope to have convinced you that inherited disorders of copper metabolism extends beyond commonly known -” Wilson’s and Menke’s disease”.
Happy learning. Do write a feedback and any doubts. Would benefit by learning together.
Shridhar
Very well explained...as always 😎
Well Done sir..💐