Aceruloplasminemia is deficiency or absence of plasma ceru-loplasmin. Ceruloplasmin was once thought to be a plasma copper carrier but it is now clear that its primary role is as a ferroxidase, aiding in the release of iron from macrophages, hepatocytes and cells of the central nervous system. Patients with this disorder are generally well early in life, but gradually develop tissue iron deposition in the liver, pancreas and brain. They typically present in middle age with retinal degeneration, dementia, hepatic iron deposition and diabetes. Treatment with deferoxamine is ineffectual; treatment with normal plasma may provide some benefit.
It is striking that virtually all recognized inborn errors of iron metabolism result in tissue iron loading rather than iron deficiency. As mentioned earlier, this suggests that there has been strong evolutionary pressure to attenuate the intestinal absorption of iron in humans, perhaps to avoid the toxicity of a metal that is abundant in our environment. Consequently, genetic defects typically result in increased iron uptake. However, there are almost certainly inherited iron deficiency disorders as well. Although the genes affected have not yet been identified, there are several case reports of familial microcytic anemia associated with impaired intestinal iron absorption. It is likely that the mutations responsible for some of these will be discovered within the next few years.
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Diabetes is a disease that affects the way your body uses food. Normally, your body converts sugars, starches and other foods into a form of sugar called glucose. Your body uses glucose for fuel. The cells receive the glucose through the bloodstream. They then use insulin a hormone made by the pancreas to absorb the glucose, convert it into energy, and either use it or store it for later use. Learn more...