Acta Med. 2002, 45: 129-133

Microelements and Inherited Metabolic Diseases

Eliška Marklová

Charles University in Prague, Faculty of Medicine in Hradec Králové, Department of Paediatrics, Hradec Králové, Czech Republic

Received April 1, 2002
Accepted September 1, 2002

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.


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