![]() |
![]() |
![]() |
Chapter 4
Iron metabolism, iron overload, and the porphyrias
Introduction
Iron is an essential mineral required by every living cell for DNA synthesis, oxygen transport, and respiration. Iron's capacity to accept and donate electrons allows it to shuttle between ferrous (Fe2+) and ferric (Fe3+) oxidation states and is essential for its participation in a number of enzymatic biochemical reactions.
In spite of the importance of iron to living cells, it can also be quite toxic. Iron catalyzes free radical formation, and therefore under physiologic states only small amounts of iron exist unbound in plasma. Iron overload may be due to increased oral intake, in the case of iron
Regulation of iron homeostasis
Hereditary hemochromatosis and other iron overload syndromes
Hereditary hemochromatosis Other causes of hemochromatosis/hemosiderosis
The porphyrias
Acute hepatic porphyrias Metabolic defects Acute intermittent porphyria Hereditary coproporphyria Variegate porphyria ALA dehydratase deficiency Clinical features Diagnostic algorithm Treatment Chronic hepatic porphyria Porphyria cutanea tarda Metabolic defect Clinical features Treatment Erythropoietic porphyrias Protoporphyria (erythropoietic protoporphyria) Metabolic defect Clinical features Therapy Congenital erythropoietic porphyria (Günther disease) Metabolic defect Clinical features Treatment | |||||||||||||||||||||||||||||||||||||||||||||||||||