Lloyd-Still J D, Powers C A, Wessel H U
Cystic Fibrosis Center, Children's Memorial Hospital, Northwestern University, Chicago, Illinois 60614.
Acta Paediatr. 1993 Feb;82(2):145-9. doi: 10.1111/j.1651-2227.1993.tb12626.x.
Acylcarnitine is low in cord blood in patients with cystic fibrosis, suggesting that fatty acid metabolism is disturbed in utero. Carnitine metabolites (total, free, short- and long-chain acylcarnitine) were measured prospectively in 23 newly diagnosed infants with cystic fibrosis treated with a carnitine-containing, predigested formula for 6-12 months. Total (p < 0.002), free (p < 0.004), and long-chain (p < 0.001) plasma concentrations of carnitines were significantly less than controls (n = 48) at diagnosis. Total and free concentrations were corrected with nutritional management, whereas short- and long-chain acylcarnitines remained unchanged. By three years of age all plasma concentrations of carnitine metabolites were significantly less than controls despite a carnitine-containing diet. Urinary carnitine metabolites were increased at diagnosis and follow-up. The physiological significance of these observations in cystic fibrosis is unknown, but could be compatible with disturbed regulatory control with resultant increased utilization.
囊性纤维化患者脐带血中的酰基肉碱水平较低，这表明其脂肪酸代谢在子宫内就受到了干扰。对23名新诊断出的囊性纤维化婴儿进行了前瞻性研究，这些婴儿使用含肉碱的预消化配方奶治疗6至12个月，期间检测了他们的肉碱代谢产物（总肉碱、游离肉碱、短链和长链酰基肉碱）。诊断时，患者的总肉碱（p < 0.002）、游离肉碱（p < 0.004）和长链肉碱（p < 0.001）血浆浓度显著低于对照组（n = 48）。通过营养管理，总肉碱和游离肉碱浓度得到了纠正，而短链和长链酰基肉碱水平保持不变。到三岁时，尽管饮食中含有肉碱，但所有肉碱代谢产物的血浆浓度仍显著低于对照组。在诊断和随访时，尿中肉碱代谢产物有所增加。这些在囊性纤维化中的观察结果的生理意义尚不清楚，但可能与调节控制紊乱导致利用率增加有关。
