Wanders R J, van Roermund C W, Schutgens R B, Barth P G, Heymans H S, van den Bosch H, Tager J M
Department of Pediatrics, University Hospital Amsterdam, The Netherlands.
J Inherit Metab Dis. 1990;13(1):4-36. doi: 10.1007/BF01799330.
In recent years a growing number of inherited diseases in man have been recognized in which there is an impairment in peroxisomal beta-oxidation. In some diseases this is due to the (virtual) absence of peroxisomes leading to a generalized loss of peroxisomal functions including peroxisomal beta-oxidation. In most inborn errors of peroxisomal beta-oxidation, however, peroxisomes are normally present and the impairment in peroxisomal beta-oxidation is due to the single or multiple loss of peroxisomal beta-oxidation enzyme activities. In all these disorders there is accumulation of very-long-chain fatty acids in plasma, which allows biochemical diagnosis of patients affected by an inborn error of peroxisomal beta-oxidation to be done via gas-chromatographic analysis of plasma very-long-chain fatty acids. Subsequent enzymic and immunological investigations are required to identify the precise enzymic defects in these patients. In all inborn errors of peroxisomal beta-oxidation known today there are multiple abnormalities, especially neurological with death usually occurring in the first decade of life. Prenatal diagnosis of these disorders has recently become possible.
近年来，人们已经认识到越来越多的人类遗传性疾病存在过氧化物酶体β氧化受损的情况。在某些疾病中，这是由于（几乎）缺乏过氧化物酶体，导致包括过氧化物酶体β氧化在内的过氧化物酶体功能普遍丧失。然而，在大多数过氧化物酶体β氧化的先天性缺陷中，过氧化物酶体通常是存在的，而过氧化物酶体β氧化受损是由于过氧化物酶体β氧化酶活性的单一或多重丧失。在所有这些疾病中，血浆中极长链脂肪酸会积累，这使得通过对血浆极长链脂肪酸进行气相色谱分析，对受过氧化物酶体β氧化先天性缺陷影响的患者进行生化诊断成为可能。随后需要进行酶学和免疫学研究，以确定这些患者的确切酶缺陷。在如今已知的所有过氧化物酶体β氧化先天性缺陷中，都存在多种异常情况，尤其是神经系统方面的异常，通常在生命的第一个十年内死亡。这些疾病的产前诊断最近已成为可能。
