A simple screening test for fatty acid oxidation defects using whole-blood palmitate oxidation

被引：18

作者：

Seargeant, LE

Balachandra, K

Mallory, C

Dilling, LA

Greenberg, CR

机构：

[1] Univ Manitoba, Dept Pediat & Child Hlth, Winnipeg, MB R3T 2N2, Canada

[2] Univ Manitoba, Dept Human Genet & Biochem, Winnipeg, MB R3T 2N2, Canada

[3] Univ Manitoba, Dept Biol Mol, Winnipeg, MB R3T 2N2, Canada

[4] Hlth Sci Ctr, Dept Clin Chem, Winnipeg, MB, Canada

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1999年 / 22卷 / 06期

关键词：

D O I：

10.1023/A:1005500318194

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We report that measurement of whole-blood palmitate oxidation is a rapid and inexpensive screening test for fatty acid oxidation defects. The assay has been adapted from published assays using cultured fibroblasts or isolated white blood cells. Micro whole-blood samples are incubated with tritiated palmitic acid as substrate. The tritiated water produced is proportional to the mitochondrial beta-oxidation of palmitic acid. Patients with confirmed beta-oxidation defects show low whole-blood palmitate oxidation.

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页码：740 / 746

页数：7

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