Shapira Y, Glick B, Harel S, Vattin J J, Gutman A
Pediatric Neurology Unit, Hadassah University Hospital, Mt. Scopus Jerusalem, Israel.
Pediatr Neurol. 1993 Jan-Feb;9(1):35-8. doi: 10.1016/0887-8994(93)90007-y.
A series of 9 infants, ranging in age from 3 months to 5 years (average: 2 years), suffered from idiopathic myopathic carnitine deficiency presenting as hypotonia and motor delay. Secondary carnitine deficiency was eliminated by appropriate tests. Muscle carnitine concentration ranged from 2.3-7.1 nmol/mg non-collagen protein (NCP; average: 4.87 nmol/mg NCP; normal: 22 +/- 6 nmol/mg NCP). Lipid accumulation in muscle was observed in 2 of 8 patients. Therapy with L-carnitine (100 mg/kg/day in most patients) was given with clinical and laboratory follow-up 6 months later. In 7 of 9 patients, muscle tone and motor function improved. Muscle carnitine concentration increased to a range of 2.7-23.4 nmol/mg (average: 12.27 nmol/mg). In some patients the muscle carnitine content multiplied by a factor of 3-4, but carnitine concentration reached the normal range in only 2 patients. Most infants with idiopathic carnitine deficiency did benefit from 6 months of therapy; however, in order to achieve full recovery the duration of therapy should probably continue for longer periods, with a dose of not less than 100 mg/kg/day.
一组9名年龄在3个月至5岁（平均2岁）的婴儿患有特发性肌病性肉碱缺乏症，表现为肌张力减退和运动发育迟缓。通过适当的检查排除了继发性肉碱缺乏症。肌肉肉碱浓度范围为2.3 - 7.1纳摩尔/毫克非胶原蛋白（NCP；平均：4.87纳摩尔/毫克NCP；正常：22±6纳摩尔/毫克NCP）。8名患者中有2名观察到肌肉脂质蓄积。给予L-肉碱治疗（大多数患者为100毫克/千克/天），6个月后进行临床和实验室随访。9名患者中有7名肌张力和运动功能有所改善。肌肉肉碱浓度增加到2.7 - 23.4纳摩尔/毫克（平均：12.27纳摩尔/毫克）。在一些患者中，肌肉肉碱含量增加了3 - 4倍，但只有2名患者的肉碱浓度达到正常范围。大多数特发性肉碱缺乏症婴儿确实从6个月的治疗中受益；然而，为了实现完全康复，治疗时间可能需要持续更长，剂量不少于100毫克/千克/天。
