Plasma and red blood cell fatty acids in peroxisomal disorders
Plasma and red blood cell fatty acids in peroxisomal disorders
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DOI：
10.1023/a:1022549618333
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发表时间：
1999-02-01
影响因子：
4.4
通讯作者：
Moser, HW
中科院分区：
文献类型：
--
作者：
Moser, AB;Jones, DS;Moser, HW
血浆或红细胞中脂肪酸或缩醛磷脂水平异常的证明是诊断过氧化物酶体疾病的关键。我们报告了X-连锁肾上腺脑白质营养不良（X-ALD）、Zellweger综合征（ZS）、新生儿肾上腺脑白质营养不良（NALD）和婴儿Refsum病（IRD）患者在基线和饮食干预后的62种脂肪酸和缩醛磷脂水平。X-ALD中的“Lorenzo's Oil”疗法使血浆中饱和极长链脂肪酸的水平正常化，但导致omega 6和其他omega 3脂肪酸的水平降低，并且需要监测和适当的膳食补充剂。患有ZS、NALD和IRD的患者具有降低的二十二碳六烯酸（DHA）和花生四烯酸（AA）水平，其可以通过口服施用微胶囊化的DHA和AA而正常化。
The demonstration of abnormal levels of fatty acids or plasmalogens in plasma or red blood cells is key to the diagnosis of peroxisomal disorders. We report the levels of 62 fatty acids and plasmalogens in patients with X-linked adrenoleukodystrophy (X-ALD), Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD), both at baseline and after dietary interventions. "Lorenzo's Oil" therapy in X-ALD normalizes the levels of saturated very long chain fatty acids in plasma, but leads to reduced levels of omega 6 and other omega 3 fatty acids, and requires monitoring and appropriate dietary supplements. Patients with ZS, NALD and IRD have reduced levels of docosahexaenoic acid (DHA) and arachidonic acid (AA) which can be normalized by the oral administration of microencapsulated DHA and AA.