Acta Medica (Jan 2002)

Microelements and Inherited Metabolic Diseases

  • Eliška Marklová

DOI
https://doi.org/10.14712/18059694.2019.69
Journal volume & issue
Vol. 45, no. 4
pp. 129 – 133

Abstract

Read online

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.

Keywords