Moser A B, Jones D S, Raymond G V, Moser H W
Kennedy Krieger Institute and Department of Neurology, Johns Hopkins University, Baltimore, MD 21205, USA.
Neurochem Res. 1999 Feb;24(2):187-97. doi: 10.1023/a:1022549618333.
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.
血浆或红细胞中脂肪酸或缩醛磷脂水平异常的检测是过氧化物酶体疾病诊断的关键。我们报告了X连锁肾上腺脑白质营养不良（X-ALD）、泽韦格综合征（ZS）、新生儿肾上腺脑白质营养不良（NALD）和婴儿型Refsum病（IRD）患者在基线时以及饮食干预后的62种脂肪酸和缩醛磷脂水平。X-ALD患者接受“洛伦佐之油”治疗可使血浆中饱和超长链脂肪酸水平正常化，但会导致ω-6和其他ω-3脂肪酸水平降低，因此需要进行监测并补充适当的膳食补充剂。ZS、NALD和IRD患者的二十二碳六烯酸（DHA）和花生四烯酸（AA）水平降低，口服微囊化DHA和AA可使其正常化。
