TY - JOUR
T1 - Fatty acid beta-oxidation in leukocytes from control subjects and medium-chain acyl-CoA dehydrogenase deficient patients
AU - Wanders, R. J.
AU - IJlst, L.
PY - 1992
Y1 - 1992
N2 - In recent years an increasing number of inherited diseases in man have been identified in which there is an impairment in mitochondrial fatty acid oxidation. Diagnosis is usually done by gas-chromatographic analysis of urine, which may give difficulties, since urinary abnormalities may only be present intermittently. We therefore studied whether leukocytes could be used to study mitochondrial beta-oxidation directly. The results described herein show that leukocytes are able to beta-oxidize octanoate and palmitate. Furthermore, clear abnormalities in octanoate beta-oxidation were found in leukocytes from patients with an established deficiency of medium-chain acyl-CoA dehydrogenase, suggesting that measurement of octanoate and palmitate beta-oxidation in leukocytes may contribute to rapid diagnosis of medium-chain acyl-CoA dehydrogenase deficiency and presumably other mitochondrial beta-oxidation disorders
AB - In recent years an increasing number of inherited diseases in man have been identified in which there is an impairment in mitochondrial fatty acid oxidation. Diagnosis is usually done by gas-chromatographic analysis of urine, which may give difficulties, since urinary abnormalities may only be present intermittently. We therefore studied whether leukocytes could be used to study mitochondrial beta-oxidation directly. The results described herein show that leukocytes are able to beta-oxidize octanoate and palmitate. Furthermore, clear abnormalities in octanoate beta-oxidation were found in leukocytes from patients with an established deficiency of medium-chain acyl-CoA dehydrogenase, suggesting that measurement of octanoate and palmitate beta-oxidation in leukocytes may contribute to rapid diagnosis of medium-chain acyl-CoA dehydrogenase deficiency and presumably other mitochondrial beta-oxidation disorders
U2 - https://doi.org/10.1016/0925-4439(92)90155-G
DO - https://doi.org/10.1016/0925-4439(92)90155-G
M3 - Article
C2 - 1737072
SN - 0925-4439
VL - 1138
SP - 80
EP - 84
JO - Biochimica et Biophysica Acta-Molecular Basis of Disease
JF - Biochimica et Biophysica Acta-Molecular Basis of Disease
IS - 1
ER -