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The frequency of MCAD mutation (K329E) in the Finnish population

✍ Scribed by E. I. Schwartz; J. Ilonen; N. A. Skobeleva; H. K. Åkerblom

Publisher
Springer
Year
1995
Tongue
English
Weight
108 KB
Volume
154
Category
Article
ISSN
0340-6997

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## Medium-chain acyl-CoA dehydrogenase (MCAD) is an enzyme responsible for large part of mitochondrial β β-oxidation of fatty acids and therefore stays on key position of cellular energy supply. In case of its deficiency, starvation, rapid growth periods or infections may cause fatal lack of energy