该病系X-连锁隐性遗传病，其生化异常为过氧化体极长链脂肪酸-CoA合成酶缺陷并导致极长链脂肪酸（very long chain fatty acids, VLCFA）的β-氧化障碍，从而表现为VLCFA的异常累积。
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血中极长链脂肪酸 VLLFA ; VLIFA ; very long chain fatty acid
将极长链脂肪酸 very long chain fatty acid ; VLCFA
中极长链脂肪酸 very long chain fatty acid ; VLCFA
导致极长链脂肪酸 very long chain fatty acids ; VLCFA
血浆极长链脂肪酸 very long chain fatty acids ; VLCFA
细胞中极长链脂肪酸 very long chain fatty acids ; VLCFAS
测定血浆极长链脂肪酸 very long chain fatty acids ; VLCFA
探讨血浆极长链脂肪酸 very long chain fatty acids ; VLCFA
以极长链脂肪酸 very long chain fatty acids ; VLCFA
The laboratory findings showed metabolic acidosis in 3 cases,elevated plasma lactic acid in 4 cases,elevated cardiac enzymes in 3 cases,high plasma levels of very long chain fatty acids in 2 patients,abnormal ceruloplasmin and urinary copper excretion in 1 case.
血液学检测发现3例失代偿性代谢性酸中毒,4例血乳酸升高,3例心肌酶谱升高,2例血极长链脂肪酸升高,1例尿铜及血铜蓝蛋白异常。
参考来源 - 先天代谢缺陷病并眼外肌麻痹9例·2,447,543篇论文数据，部分数据来源于NoteExpress
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