Peroxisomal defects in neonatal-onset and X-linked adrenoleukodystrophies.
Peroxisomal defects in neonatal-onset and X-linked adrenoleukodystrophies.
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新生儿发病和 X 连锁肾上腺脑白质营养不良中的过氧化物酶体缺陷。
DOI：
10.1126/science.3964959
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发表时间：
1985
期刊：
影响因子：
--
通讯作者：
Lazarow,PB
中科院分区：
文献类型：
--
作者：
Goldfischer,S;Collins,J;Rapin,I;Coltoff-Schiller,B;Chang,CH;Nigro,M;Black,VH;Javitt,NB;Moser,HW;Lazarow,PB
X连锁和新生儿型肾上腺脑白质营养不良(ALD)中超长链脂肪酸的积聚似乎是超长链脂肪酸氧化不足的结果，这一功能被归因于过氧化酶体。从一名X连锁疾病患者的肝脏活检中很容易识别出过氧化物酶体。然而，在一例新生儿起病的ALD患者的肝活检中，肝细胞过氧化物体的大小和数量大大减少，可沉淀的过氧化氢酶显著减少。新生儿ALD患者血清吡哌酸和胆汁酸中间体三羟基辅前列酸的浓度升高与过氧化物酶活性的普遍降低有关，这在X连锁ALD患者中没有观察到。
Accumulation of very long chain fatty acids in X-linked and neonatal forms of adrenoleukodystrophy (ALD) appears to be a consequence of deficient oxidation of very long chain fatty acids, a function that has been attributed to peroxisomes. Peroxisomes were readily identified in liver biopsies taken from a patient having the X-linked disorder. However, in liver biopsies from a patient having neonatal-onset ALD, hepatocellular peroxisomes were greatly reduced in size and number, and sedimentable catalase was markedly diminished. The presence of increased concentrations of serum pipecolic acid and the bile acid intermediate, trihydroxycoprostanic acid, in the neonatal ALD patient are associated with a generalized diminution of peroxisomal activities that was not observed in the patient with X-linked ALD.