Primary and Secondary Disturbances in Trace Element Metabolism Connected with Genetic Metabolic Disorders

Over the past 20 years, several inherited disturbances in mineral and trace element metabolism were identified, including primary hypomagnesaemia caused by impaired absorption or kidney handling, and secondary disturbances in selenium and zinc due to dietary treatments and parenteral nutrition. Acrodermatitis enteropathica, an autosomal-recessive disorder, resulted in skin lesions, alopecia, and dystrophy, with reduced zinc absorption and low zinc levels in serum, urine, and hair. In copper metabolism, Menkes’ syndrome involved intestinal copper malabsorption, while Wilson’s disease led to increased copper in organs, both associated with low serum and caerulosplasmin levels.