Wanders R J, Ijlst L
Department of Pediatric Clinical Biochemistry, University Hospital Amsterdam, The Netherlands.
Biochim Biophys Acta. 1992 Jan 16;1138(1):80-4. doi: 10.1016/0925-4439(92)90155-g.
In recent years an increasing number of inherited diseases in man have been identified in which there is an impairment in mitochondrial fatty acid oxidation. Diagnosis is usually done by gas-chromatographic analysis of urine, which may give difficulties, since urinary abnormalities may only be present intermittently. We therefore studied whether leukocytes could be used to study mitochondrial beta-oxidation directly. The results described herein show that leukocytes are able to beta-oxidize octanoate and palmitate. Furthermore, clear abnormalities in octanoate beta-oxidation were found in leukocytes from patients with an established deficiency of medium-chain acyl-CoA dehydrogenase, suggesting that measurement of octanoate and palmitate beta-oxidation in leukocytes may contribute to rapid diagnosis of medium-chain acyl-CoA dehydrogenase deficiency and presumably other mitochondrial beta-oxidation disorders.
近年来，已发现人类中越来越多的遗传性疾病存在线粒体脂肪酸氧化受损的情况。诊断通常通过尿液的气相色谱分析来进行，但这可能会遇到困难，因为尿液异常可能只是间歇性出现。因此，我们研究了白细胞是否可用于直接研究线粒体β-氧化。本文所述结果表明，白细胞能够对辛酸和棕榈酸进行β-氧化。此外，在已确诊为中链酰基辅酶A脱氢酶缺乏症患者的白细胞中，发现辛酸β-氧化存在明显异常，这表明检测白细胞中辛酸和棕榈酸的β-氧化可能有助于快速诊断中链酰基辅酶A脱氢酶缺乏症以及其他可能的线粒体β-氧化障碍。
