A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A-->G985 transition.
作者信息
Leung K C, Hammond J W, Chabra S, Carpenter K H, Potter M, Wilcken B
机构信息
Oliver Latham Laboratory, New South Wales Department of Health, Sydney, Australia.
出版信息
J Pediatr. 1992 Dec;121(6):965-8. doi: 10.1016/s0022-3476(05)80353-1.
PMID:1447668
Abstract
A term neonate became lethargic and hypotonic at 46 hours of age and died 10 hours later despite supportive therapy. Urinary organic acids indicated medium-chain acyl-coenzyme A dehydrogenase deficiency, and DNA studies confirmed this disorder. Neonatal symptoms in this enzyme deficiency have rarely been reported, and recent reviews have ignored or discounted this presentation.
摘要
Zotero 插件