METABOLIC STUDIES OF CARNITINE IN A CHILD WITH PROPIONIC ACIDEMIA
METABOLIC STUDIES OF CARNITINE IN A CHILD WITH PROPIONIC ACIDEMIA
复制标题
DOI：
10.1203/00006450-198907000-00018
复制
发表时间：
1989-07-01
影响因子：
3.6
通讯作者：
GUNNING, WT
中科院分区：
文献类型：
--
作者：
KURCZYNSKI, TW;HOPPEL, CL;GUNNING, WT
肉毒碱代谢的研究在一个7岁的男孩丙酸血症由于几乎完全缺乏丙酰辅酶A羧化酶。最初的诊断是在3周龄时作出的，随后尽管补充了含有生物素的低含量支链氨基酸饮食，但仍发生了多次代谢性酸中毒。尽管临床稳定且处于非酸中毒状态，但总肉毒碱的血浆浓度是正常的（38.9 μ M;正常= 46 ± 0.001 μ M）。10，平均值±。SD，n = 30），而游离肉毒碱减少（5.7 μ M;正常= 37 ± 0.01）。8)和短链酰基肉毒碱增加（28.6 μ M;正常= 5.7 ± 0.01）。3.5）。通过开放活检获得的骨骼肌和肝脏标本具有较低的总和游离肉毒碱含量，并且短链酰基肉毒碱与游离肉毒碱的比率增加。肝脏中短链酰基肉毒碱含量较低，但骨骼肌中短链酰基肉毒碱含量增加。肝脏中含有脂肪空泡、增大的线粒体（含次晶内含物）和大量过氧化物酶体，而骨骼肌中也有脂质空泡，线粒体数量和大小增加。一个肉毒碱挑战试验（100毫克L-肉毒碱/公斤体重通过胃造口管）导致在120分钟的峰值血浆肉毒碱浓度。与维持治疗100毫克L-肉毒碱/公斤/天的血浆游离肉毒碱保持相对较低，血浆甘氨酸浓度下降，尿酰基肉毒碱排泄增加。这项研究表明，在血浆和尿液中观察到的肉毒碱及其衍生物的变化反映了相同类型的改变在组织中的分布，并提供了进一步的数据L-肉毒碱治疗的效果。
Carnitine metabolism was studied in a 7-y-old boy with propionic acidemia due to an almost total deficiency of propionyl-CoA carboxylase. The initial diagnosis was made at 3 wk of age followed by numerous episodes of metabolic acidosis despite a low-content branch-chain amino acid diet containing supplemental biotin. Although clinically stable and in a nonacidotic state, the plasma concentration of total carnitine was normal (38.9 .mu.M; normal = 46 .+-. 10, mean .+-. SD, n = 30) whereas free carnitine was decreased (5.7 .mu.M; normal = 37 .+-. 8) and short-chain acylcarnitines were increased (28.6 .mu.M; normal = 5.7 .+-. 3.5). Skeletal muscle and liver specimens obtained by open biopsy had low total and fee carnitine contents and increased ratio of short-chain acylcarnitines to free carnitine. Short-chain acylcarnitine content was low in liver but increased in skeletal muscle. The liver contained fatty vacuoles, enlarged mitochondria with paracrystalline inclusions, and numerous peroxisomes whereas the skeletal muscle also had lipid vacuoles and an increase in number and size of mitochondria. A carnitine challenge test (100 mg L-carnitine/kg body wt via a gastrostomy tube) resulted in a peak plasma carnitine concentration at 120 min. With maintenance therapy of 100 mg L-carnitine/kg/day the plasma free carnitine remained relatively low, the plasma glycine concentration decreased, and urinary acylcarnitine excretion increased. This study demonstrates that the alterations in carnitine and its derivatives observed in plasma and urine reflect the same type of altered distribution in tissue and provides further data on the effects of L-carnitine therapy.