Meyburg J, Schulze A, Kohlmueller D, Linderkamp O, Mayatepek E
Department of Neonatology, University Children's Hospital, 69120 Heidelberg, Germany.
Pediatr Res. 2001 Jan;49(1):125-9. doi: 10.1203/00006450-200101000-00024.
++Electrospray-tandem mass spectrometry represents a powerful method for detection of inborn errors of fatty acid metabolism. In the present study, it was used to examine neonatal carnitine metabolism, which reflects fatty acid metabolism. In 70 healthy neonates, blood samples were taken from the umbilical cord and by heel-stick puncture in full-term neonates on postnatal d 5. Cord blood specimens were also obtained from 15 preterm and 10 small-for-gestational-age infants. Acylcarnitine concentrations were measured in dried blood spots by electrospray tandem mass spectrometry. Compared with cord blood, the levels of nearly all acylcarnitine species were significantly higher on the postnatal d 5, whereas free carnitine remained unchanged. Total acylcarnitine/free carnitine-ratio increased, whereas the free carnitine/total carnitine-ratio (0.54 +/- 0.05; p < 0.01) further decreased. A reduced availability of free carnitine in the early neonatal period may affect fatty acid oxidation and thus be of potential pathophysiological relevance under conditions with higher energy demands, e.g. in sepsis. Cord blood concentrations of free carnitine, total carnitine, and total acylcarnitines were strongly related to birth weight (p < 0.01). Lower umbilical artery pH, i.e. mild hypoxia, caused accumulation of mainly long-chain acylcarnitines. This implicates that long-chain acylcarnitines could serve as a parameter of perinatal asphyxia.
电喷雾串联质谱法是检测脂肪酸代谢先天性缺陷的一种强大方法。在本研究中,该方法被用于检测反映脂肪酸代谢的新生儿肉碱代谢情况。对70名健康新生儿,在出生后第5天从足月新生儿的脐带和足跟穿刺采集血样。还从15名早产儿和10名小于胎龄儿获取了脐带血标本。通过电喷雾串联质谱法测定干血斑中的酰基肉碱浓度。与脐带血相比,几乎所有酰基肉碱种类的水平在出生后第5天显著升高,而游离肉碱保持不变。总酰基肉碱/游离肉碱比值增加,而游离肉碱/总肉碱比值(0.54±0.05;p<0.01)进一步降低。新生儿早期游离肉碱可用性降低可能影响脂肪酸氧化,因此在能量需求较高的情况下,如脓毒症时,可能具有潜在的病理生理学意义。脐带血中游离肉碱、总肉碱和总酰基肉碱的浓度与出生体重密切相关(p<0.01)。脐动脉pH值降低,即轻度缺氧,主要导致长链酰基肉碱蓄积。这表明长链酰基肉碱可作为围产期窒息的一个指标。