Serum C14:1/C12:1 ratio is a useful marker for differentiating affected patients with very long-chain acyl-CoA dehydrogenase deficiency from heterozygous carriers.,Molecular Genetics and Metabolism Reports

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Serum C14:1/C12:1 ratio is a useful marker for differentiating affected patients with very long-chain acyl-CoA dehydrogenase deficiency from heterozygous carriers.
Molecular Genetics and Metabolism Reports ( IF 1.9 ) Pub Date : 2019-11-05 , DOI: 10.1016/j.ymgmr.2019.100535
Kenji Yamada ₁ , Yoshimitsu Osawa _{1,

2} , Hironori Kobayashi ₁ , Yuki Hasegawa ₁ , Seiji Fukuda ₁ , Seiji Yamaguchi ₁ , Takeshi Taketani ₁

Affiliation

Introduction

Various markers, such as C14:1 and the C14:1/C2 ratio, are used as diagnostic markers of very long-chain acyl-CoA dehydrogenase deficiency (VLCADD). However, the levels of these markers in patients with VLCADD overlap with those in heterozygous carriers and even healthy subjects.

Materials and methods

In twenty-three affected patients and 15 heterozygous carriers with VLCADD, the accuracies of C14:1, C14:1/C12:1, C14:1/C2, and C14:1/C16 in dried blood spots (DBS) and serum were statistically estimated.

Results

Among the serum markers, the sensitivity, specificity, positive predictive value, negative predictive value, false-positive rate, false-negative rate, and validity of C14:1/C12:1 were superior to those of C14:1, C14:1/C2, and C14:1/C16, but C14:1/C2 demonstrated a statistical advantage compared with only C14:1 and C14:1/C16. Elevation in serum C14:1/C12:1 was observed in only one heterozygous carrier, whereas almost half of the carriers displayed false positive results for the other markers. Among the DBS markers, although the accuracy of C14:1/C2 was ostensibly the best, no statistical significance was observed.

Discussion

Serum C14:1/C12:1 might be useful for differentiating patients with VLCADD from heterozygous carriers. Although serum C14:1/C2 was significantly useful for the detection of VLCADD, this marker could not distinguish the affected patients from carriers. C14:1/C12:1 might be optimal compared with the other markers.

中文翻译：

血清 C14:1/C12:1 比率是区分患有极长链酰基辅酶A 脱氢酶缺乏症的患者与杂合子携带者的有用标志物。

介绍

各种标志物，如 C14:1 和 C14:1/C2 比率，被用作超长链酰基辅酶 A 脱氢酶缺乏症 (VLCADD) 的诊断标志物。然而，VLCADD 患者的这些标志物水平与杂合子携带者甚至健康受试者的水平重叠。

材料和方法

在 23 名受累患者和 15 名 VLCADD 杂合子携带者中，干血斑 (DBS) 和血清中 C14:1、C14:1/C12:1、C14:1/C2 和 C14:1/C16 的准确性为统计估计。

结果

血清标志物中，C14:1/C12:1的敏感性、特异性、阳性预测值、阴性预测值、假阳性率、假阴性率和效度均优于C14:1、C14:1 /C2 和 C14:1/C16，但 C14:1/C2 与仅 C14:1 和 C14:1/C16 相比具有统计学优势。仅在一个杂合子携带者中观察到血清 C14:1/C12:1 的升高，而几乎一半的携带者对其他标志物显示出假阳性结果。在 DBS 标记中，虽然 C14:1/C2 的准确性表面上是最好的，但没有观察到统计学意义。