Microelements and inherited metabolic diseases.
In addition to the main groups of inherited metabolic diseases, including mitochondrial, peroxisomal and lysosomal defects, organic acidurias, porphyrias, defects of amino acids, saccharides and fatty acids metabolism, disorders of transport and utilisation of microelements have also been recognized. Recent findings concerning hereditary hemochromatosis (iron), Wilson and Menkes diseases (copper), molybdenum cofactor deficiency (molybdenum), defects of cobalamine synthesis (cobalt) and acrodermatitis enteropathica (zinc) are reviewed.
Marklová
Eliska
E
Charles University in Prague, Faculty of Medicine in Hradec Králové, Department of Paediatrics, Czech Republic. marklova@lfhk.cuni.cz
D003035:Cobalt / Q000378:metabolism; D003300:Copper / Q000378:metabolism; D006801:Humans; D019189:Iron Metabolism Disorders / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D008664:Metal Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D008982:Molybdenum / Q000378:metabolism
D003035:Cobalt; D003300:Copper; D008982:Molybdenum