Assay of methylmalonic acid in the serum of patients with cobalamin deficiency using capillary gas chromatography-mass spectrometry.
Assay of methylmalonic acid in the serum of patients with cobalamin deficiency using capillary gas chromatography-mass spectrometry.
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使用毛细管气相色谱-质谱法测定钴胺素缺乏症患者血清中的甲基丙二酸。
DOI：
10.1172/jci112476
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发表时间：
1986
期刊：
影响因子：
--
通讯作者：
Lindenbaum,J
中科院分区：
文献类型：
--
作者：
Stabler,SP;Marcell,PD;Podell,ER;Allen,RH;Lindenbaum,J
为确定钴胺缺乏症患者血清甲基丙二酸水平升高的发生率，我们采用一种新的毛细管气相色谱-质谱法测定了73例临床确诊的钴胺缺乏症患者的血清甲基丙二酸水平。测定值范围为55~22,300 ng/ml，73例患者中有69例高于50例正常献血员测定的正常范围19~76 ng/ml。在钴胺缺乏患者中，血清甲基丙二酸水平与血清叶酸水平及神经受累程度显著相关。一些间歇使用氰钴胺治疗的恶性贫血患者被发现血清甲基丙二酸水平升高，但没有血液学和神经系统异常。一例钴胺缺乏的患者被描述为血清钴胺正常，而血清甲基丙二酸升高。我们的结论是，测量人血清中甲基丙二酸的能力将有助于确定不同患者群体中钴胺缺乏症的发生率。
To determine the incidence of elevated levels of serum methylmalonic acid in patients with cobalamin deficiency, we utilized a new capillary gas chromatographic-mass spectrometric technique to measure methylmalonic acid in the serum of 73 patients with clinically confirmed cobalamin deficiency. Values ranged from 55 to 22,300 ng/ml, and 69 of the 73 patients had values above the normal range of 19-76 ng/ml as determined for 50 normal blood donors. In the cobalamin-deficient patients, serum methylmalonic acid was significantly correlated with the serum folate level and the degree of neurologic involvement. Some patients with pernicious anemia who were intermittently treated with cyanocobalamin were found to have elevated serum levels of methylmalonic acid while free of hematologic and neurologic abnormalities. A cobalamin-deficient patient is described with a normal serum cobalamin and an elevated serum methylmalonic acid. We conclude that the ability to measure methylmalonic acid in human serum will be useful in studies designed to determine the incidence of cobalamin deficiency in various patient populations.