Article
A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A-->G985 transition.
The Journal of pediatrics - 1 Dec 1992
Leung K C, Hammond J W, Chabra S, Carpenter K H, Potter M, Wilcken B
Abstract excerpt
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 rar...
Topics
- Acyl-CoA Dehydrogenase
- DNA
- Fatty Acid Desaturases
- Fatty Acids
- Gas Chromatography-Mass Spectrometry
- Humans
- Infant, Newborn
- Lipid Metabolism, Inborn Errors
- Male
- Mutation
- Polymerase Chain Reaction
- Spectrometry, Mass, Fast Atom Bombardment