Tanner Laura M, Näntö-Salonen Kirsti, Rashed Mohamed S, Kotilainen Soile, Aalto Maija, Venetoklis Jaana, Niinikoski Harri, Huoponen Kirsi, Simell Olli
Department of Pediatrics, University of Turku, 20520 Turku, Finland.
Metabolism. 2008 Apr;57(4):549-54. doi: 10.1016/j.metabol.2007.11.019.
The aim of the study was to investigate the prevalence and mechanisms of development of carnitine deficiency in patients with lysinuric protein intolerance (LPI). In our cohort of 37 Finnish patients with LPI, 8 (8-52 years of age) have been diagnosed with hypocarnitinemia. Their free and total serum carnitine levels, acyl carnitine profiles, renal function, diet, and medication were compared with the data from 8 age- and sex-matched patients with LPI not treated with carnitine supplementation. In patients with LPI, hypocarnitinemia was strongly associated with female sex, renal insufficiency, and the use of ammonia-scavenging drugs. Of the 8 hypocarnitinemic patients, 3 complained of muscle weakness, and their symptoms disappeared during carnitine supplementation. Oral lysine supplementation did not correct hypocarnitinemia in our patients. The patients with LPI are at considerable risk for carnitine deficiency. Supplementation of hypocarnitinemic LPI patients with oral L-carnitine improved serum total carnitine values, but the ratio of free and total carnitine remained subnormal in all supplemented patients except one. Furthermore, decreased ratio of free and total serum carnitine was common even in LPI patients with normal total serum carnitine concentration.
本研究旨在调查赖氨酸尿性蛋白不耐受（LPI）患者中肉碱缺乏的患病率及发生机制。在我们的37例芬兰LPI患者队列中，8例（年龄8 - 52岁）被诊断为低肉碱血症。将他们的游离和总血清肉碱水平、酰基肉碱谱、肾功能、饮食及用药情况与8例年龄和性别匹配但未补充肉碱治疗的LPI患者的数据进行比较。在LPI患者中，低肉碱血症与女性、肾功能不全及使用氨清除药物密切相关。8例低肉碱血症患者中，3例主诉肌肉无力，补充肉碱期间症状消失。口服赖氨酸补充剂未能纠正我们患者的低肉碱血症。LPI患者存在相当大的肉碱缺乏风险。对低肉碱血症的LPI患者补充口服L - 肉碱可提高血清总肉碱值，但除1例患者外，所有补充患者的游离与总肉碱比值仍低于正常。此外，即使血清总肉碱浓度正常的LPI患者，游离与总血清肉碱比值降低也很常见。
