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Production and disposal of medium‐chain fatty acids in children with medium‐chain acyl‐CoA dehydrogenase deficiency
Author(s) -
Heales S. J. R.,
Thompson G. N.,
Massoud A. F.,
Rahman S.,
Halliday D.,
Leonard J. V.
Publication year - 1994
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf00735398
Subject(s) - lipolysis , acyl coa dehydrogenase , dehydrogenase , in vivo , chemistry , medicine , biochemistry , endocrinology , metabolism , beta oxidation , basal (medicine) , enzyme , biology , adipose tissue , diabetes mellitus , microbiology and biotechnology
Summary The effect of fasting on plasma concentrations of fatty acids has been determined in four children with medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency. In addition, the in vivo rate of octanoate oxidation was measured, using [1‐ 13 C]octanoate. In the three older children (1.5–11.2 years), fasting for up to 18 h stimulated lipolysis, as reflected by the increasing concentration of free fatty acids, but with little rise in concentrations of medium‐chain fatty acids, octanoate, decanoate and cis ‐4‐decenoate. In an infant (0.5 year), lipolysis was greater and was accompanied by rising concentrations of medium‐chain fatty acids. After 13.5 h there was a rapid increase in the concentration of decanoate and cis ‐4‐decenoate. The calculated in vivo rate of octanoate oxidation was substantial in all patients studied (6.4–13.1 µmol/kg per h) despite very low MCAD activity in vitro . It is concluded that under basal conditions the in vivo oxidation rate of medium‐chain fatty acids is near normal in the four children studied with MCAD deficiency.