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Review
. 1992 Dec;121(6):965-8.
doi: 10.1016/s0022-3476(05)80353-1.

A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A-->G985 transition

K C Leung  1 , J W Hammond, S Chabra, K H Carpenter, M Potter, B Wilcken
Affiliations
Review

A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A-->G985 transition

K C Leung et al. J Pediatr. 1992 Dec.

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.

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