Abstract
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.
Highlights
Inherited metabolic disorders in children are not common; their cumulative incidence is estimated to be 1 in every 500 newborns
The mineral nutrients are usually divided into macroelements, the most abundant substances dissolved in the extracellular and intracellular fluids, and microelements with daily requirement less than 100 mg [21]
Disturbances relevant to microelements might be caused by deficiency due to poorly balanced nutrition or by metabolic defects, both primary and secondary
Summary
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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