成年人血浆植烷酸水平的意义。
The significance of plasma phytanic acid levels in adults.
作者信息
Britton T C, Gibberd F B, Clemens M E, Billimoria J D, Sidey M C
机构信息
Department of Neurology, Westminster Hospital, London, UK.
出版信息
J Neurol Neurosurg Psychiatry. 1989 Jul;52(7):891-4. doi: 10.1136/jnnp.52.7.891.
The presence of phytanic acid in tissues and plasma has been considered diagnostic of heredopathia atactica polyneuritiformis (Refsum's disease), but recently slightly raised plasma phytanic acid levels have been reported in other conditions. Forty two normal people were found to have a phytanic acid level of 0-33 mumol/l. Fourteen patients with heredopathia atactica polyneuritiformis had a plasma phytanic acid level before treatment of 992-6400 mumol/l. Five patients with retinitis pigmentosa but not heredopathia atactica polyneuritiformis had plasma levels of 38-192 mumol/l. It was concluded that some patients with retinitis pigmentosa without heredopathia atactica polyneuritiformis but a raised plasma phytanic acid may represent a group of patients with a disease or diseases as yet uncharacterised apart from the retinal condition.
组织和血浆中植烷酸的存在一直被视为诊断多神经炎型遗传性共济失调（Refsum病）的依据，但最近有报道称在其他情况下血浆植烷酸水平也会略有升高。发现42名正常人的植烷酸水平为0 - 33微摩尔/升。14名多神经炎型遗传性共济失调患者在治疗前血浆植烷酸水平为992 - 6400微摩尔/升。5名患有视网膜色素变性但非多神经炎型遗传性共济失调的患者血浆水平为38 - 192微摩尔/升。得出的结论是，一些患有视网膜色素变性但无多神经炎型遗传性共济失调且血浆植烷酸升高的患者可能代表一组除视网膜疾病外尚未明确特征的疾病患者。
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