Elevation of total homocysteine in the serum of patients with cobalamin or folate deficiency detected by capillary gas chromatography-mass spectrometry.

TLDR

The study aims to determine whether serum total homocysteine levels are elevated in patients with cobalamin or folate deficiency and to use this measurement to estimate the incidence of these deficiencies in various populations. The authors employed a novel capillary gas chromatography–mass spectrometry method to quantify serum total homocysteine in 78 cobalamin‑deficient and 19 folate‑deficient patients. Serum total homocysteine was markedly elevated in both cobalamin‑ and folate‑deficient patients, with 77/78 and 18/19 individuals exceeding the normal range, and its levels correlated positively with folate, mean corpuscular volume, lactate dehydrogenase, methylmalonic acid, and neurologic involvement while inversely with platelets and hematocrit.

Abstract

To determine if levels of serum total homocysteine are elevated in patients with either cobalamin or folate deficiency, we utilized a new capillary gas chromatographic-mass spectrometric technique to measure total homocysteine in the serum of 78 patients with clinically confirmed cobalamin deficiency and 19 patients with clinically confirmed folate deficiency. Values ranged from 11 to 476 mumol/liter in the cobalamin-deficient patients and 77 of the 78 patients had values above the normal range of 7-22 mumol/liter as determined for 50 normal blood donors. In the cobalamin-deficient patients, serum total homocysteine was positively correlated with serum folate, mean corpuscular volume, serum lactate dehydrogenase, serum methylmalonic acid, and the degree of neurologic involvement, and inversely correlated with platelets and hematocrit. In the folate-deficient patients, values for serum total homocysteine ranged from 17 to 185 mumol/liter and 18 of the 19 patients had values above the normal range. Some patients with pernicious anemia who were intermittently treated with cyanocobalamin were found to have elevated serum levels of total homocysteine while they were free of hematologic and neurologic abnormalities. The measurement of serum total homocysteine will help define the incidence of cobalamin deficiency and folate deficiency in various patient populations.