You are examining a patient manifesting symptoms typically seen in one suffering from severe hemochromatosis including slurred speech, memory impairment, ataxia, and dementia as well as bronze diabetes. Genetic analysis and examination of plasma proteins indicate the patient does not have the typical causes of iron overload. Which of the following proteins is most likely absent or defective in this patient that would explain the observed symptoms?

Question

Quizplus · Accepted Answer

The symptoms and genetic analysis suggest a condition related to copper metabolism, such as Wilson's disease, where ceruloplasmin is often absent or defective, leading to copper accumulation and similar symptoms.  Ceruloplasmin is a copper-binding protein that serves not only to transport copper but also is a plasma ferroxidase that oxidizes ferrous iron to ferric iron which can then be bound by transferrin and transported in the blood. Aceruloplasminemia is a rare, recessively inherited neurodegenerative disorder characterized by a lack of ceruloplasmin in the circulation. The lack of ceruloplasmin results in abnormal iron use in the body and leads to iron deposits in various body tissues such as the brain, pancreas, and liver. The iron overload results a neurodegeneration, diabetes, and numerous other symptoms.

You Are Examining a Patient Manifesting Symptoms Typically Seen in One