1. This might be explained partly by poor diagnostic efficiency and misdiagnoses. However, it is well known that asymptomatic but genotypically affected siblings of patients with MCAD deficiency exist.'6 It seems likely that genetically defined MCAD deficiency is, in many cases, a condition that does not result in a serious clinical disease and, therefore, is not diagnosed. On the other hand several patients are known to have died in the first months of life due to MCAD deficiency,6 1718 and "missing cases"
2. Disorders of mitochondrial fatty acid oxidation-especially medium-chain acyl CoA dehydrogenase (MCAD) deficiency;Gregersen, N.; Andresen, B.S.; Bross, P.; Bolund, L.; Kolvraa, S.,1995
3. Mitochondrial fatty acid disorders;Roe, C.R.; Coates, P.M.,1995
4. Purification of human very-long-chain acyl-coenzyme A dehydrogenase A and characterization of its deficiency in seven patients;Aoyama, T.; Souri, M.; Ushikubo, S.; Kamijo, T.; Yamaguchi, S.; Kelley, R.I.;J Clin Invest,1995
5. Defects in mitochondrial fatty oxidation: clinical presentations and their role in sudden infant death;Politt, R.J.;Paediatr Paedol,1993