SYSTEMIC CARNITINE DEFICIENCY - A TREATABLE INHERITED LIPID-STORAGE DISEASE PRESENTING AS REYES-SYNDROME
SYSTEMIC CARNITINE DEFICIENCY - A TREATABLE INHERITED LIPID-STORAGE DISEASE PRESENTING AS REYES-SYNDROME
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DOI：
10.1056/nejm198012113032403
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发表时间：
1980-01-01
影响因子：
158.5
通讯作者：
CEDERBAUM, SD
中科院分区：
文献类型：
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作者：
CHAPOY, PR;ANGELINI, C;CEDERBAUM, SD
一名3岁半男孩在3个月时就诊。年龄的急性发作嗜睡，嗜睡，低血糖，肝肿大和心脏肿大，这对血糖水平恢复正常反应不佳。在随后的严重低血糖发作中没有出现酮尿，这促使我们寻找脂肪酸氧化缺陷。血浆肉毒碱（2.0至5.0 μ mol/l）、肌肉肉毒碱（0.01至0.02 μ mol/g，湿重）和肝肉毒碱（0.021至0.065 μ mol/g，湿重）均小于正常平均值的5%。在36小时禁食期间，几乎检测不到酮。口服肉毒碱超过6个月的长期治疗。在此期间，肌肉力量增加，心脏大小急剧减少，心肌病缓解，血浆和肌肉中肉毒碱水平部分补充，肝脏完全补充。全身性肉毒碱缺乏是复发性Reye's样综合征的一个容易治疗的原因。其诊断需要测量肉毒碱水平。
A 3 1/2 yr old boy presented at 3 mo. of age with an acute episode of lethargy, somnolence, hypoglycemia, hepatomegaly and cardiomegaly, which responded poorly to restoration of the blood sugar level to normal. The absence of ketonuria during subsequent episodes of severe hypoglycemia prompted a search for a defect in fatty acid oxidation. Plasma carnitine (2.0 to 5.0 .mu.mol/l), muscle carnitine (0.01 to 0.02 .mu.mol/g, wet weight) and liver carnitine (0.021 to 0.065 .mu.mol/g, wet weight) were all less than 5% of the normal mean. During a 36 h fast, ketones were barely detectable. Prolonged treatment with oral carnitine over a 6-mo. period resulted in increased muscle strength, a dramatic reduction in cardiac size, relief of cardiomyopathy, partial repletion of carnitine levels in plasma and muscle and complete repletion in the liver. Systemic carnitine deficiency is an easily treatable cause of recurrent Reye''s-like syndrome. Its diagnosis requires measurement of carnitine levels.