Compromised fatty acid oxidation in mitochondrial disorders.
Measurement of palmitate oxidation by the tritium release method in cultured fibroblasts or in lymphocytes detects patients with mitochondrial beta-oxidation disorders and in addition many patients with dysfunction of the respiratory chain. The clinical presentation and studies of metabolite levels in serum and urine are valuable in the differential diagnosis between these two groups of disorders.
Hagenfeldt
L
L
Department of Laboratory Sciences and Technology, Karolinska Institutet, Huddinge University Hospital, Sweden.
D005227:Fatty Acids / Q000378:metabolism*; D006801:Humans; D017240:Mitochondrial Myopathies / Q000235:genetics / Q000378:metabolism*; D010084:Oxidation-Reduction
D005227:Fatty Acids