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Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: evaluating the effects on outcome

✍ Scribed by Carol Dezateux

Publisher
Springer
Year
2003
Tongue
English
Weight
174 KB
Volume
162
Category
Article
ISSN
0340-6997

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## Communicated by Ronald J.A. Wanders Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most frequent inherited defect of fatty acid oxidation, with a significant morbidity and mortality in undiagnosed patients. Adverse outcomes can effectively be prevented by avoiding metabolic stres