急性重症心肌病作为晚发型极长链酰基辅酶A脱氢酶缺乏症的主要症状。
Acute, severe cardiomyopathy as main symptom of late-onset very long-chain acyl-coenzyme A dehydrogenase deficiency.
作者信息
Parini R, Menni F, Garavaglia B, Fesslova V, Melotti D, Massone M L, Lamantea E, Rimoldi M, Vizziello P, Gatti R
机构信息
Clinica Pediatrica II, Istituti Clinici di Perfezionamento, Milano, Italy.
出版信息
Eur J Pediatr. 1998 Dec;157(12):992-5. doi: 10.1007/s004310050984.
PMID:9877038
Abstract
UNLABELLED
A 5-year-old boy with late-onset very long-chain acyl-CoA-dehydrogenase (VLCAD) deficiency presented with acute cardiomyopathy, myopathy, gross myoglobinuria and normoglycaemia. The clinical course after diagnosis was favourable.
CONCLUSION
late-onset VLCAD deficiency may present as acute cardiomyopathy.
摘要
未标注
一名5岁晚发型极长链酰基辅酶A脱氢酶（VLCAD）缺乏症男孩出现急性心肌病、肌病、大量肌红蛋白尿和血糖正常。诊断后的临床病程良好。
结论
晚发型VLCAD缺乏症可能表现为急性心肌病。
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