A rare genetic disorder of copper absorption. The defect is in the mechanism for copper absorption by the enterocyte. Symptoms are those of copper deficiency. The mutation is in the ATP7A gene that encodes the copper transporter P-type ATPase.
Metabolic defect resulting from a mutation on the X chromosome that alters the transport of copper within the human body, resulting in neurological degeneration, connective tissue disorders, and premature death.