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Compromised fatty acid oxidation in mitochondrial disorders
Author(s) -
Hagenfeldt L.
Publication year - 1998
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 - 10.1023/a:1005431424744
Subject(s) - beta oxidation , metabolite , urine , mitochondrion , respiratory chain , respiratory system , mitochondrial disease , medicine , mitochondrial respiratory chain , endocrinology , biochemistry , chemistry , metabolism , mitochondrial dna , gene
Measurement of palmitate oxidation by the tritium release method in cultured fibroblasts or in lymphocytes detects patients with mitochondrial β‐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.