Article
Medium-chain acyl-CoA dehydrogenase deficiency does not correlate with apparent life-threatening events and the sudden infant death syndrome: results from phenylpropionate loading tests and DNA analysis.
European journal of pediatrics - 1 May 1994
Penzien J M, Molz G, Wiesmann U N, Colombo J P, Bühlmann R, Wermuth B
Abstract excerpt
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disorder of fatty acid metabolism and typically presents in early childhood as potentially fatal hypoketotic, hypoglycaemic crisis often associated with Reye-like symptoms. Re-investigations of cases of sudden infant death syndrome (SIDS) have revealed in some instances a deficiency of MCAD, suggesting that this metabolic disorder...
Topics
- Acyl-CoA Dehydrogenase
- Acyl-CoA Dehydrogenases
- Child
- Child, Preschool
- DNA
- DNA Mutational Analysis
- Heterozygote
- Homozygote
- Humans
- Infant
- Infant, Newborn