Marklová Eliska
Charles University in Prague, Faculty of Medicine in Hradec Králové, Department of Paediatrics, Czech Republic.
Acta Medica (Hradec Kralove). 2002;45(4):129-33.
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.
除了主要的遗传性代谢疾病组,包括线粒体、过氧化物酶体和溶酶体缺陷、有机酸血症、卟啉病、氨基酸、糖类和脂肪酸代谢缺陷外,微量元素转运和利用障碍也已得到确认。本文综述了关于遗传性血色素沉着症(铁)、威尔逊病和门克斯病(铜)、钼辅因子缺乏症(钼)、钴胺素合成缺陷(钴)和肠病性肢端皮炎(锌)的最新研究结果。