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  • Title: Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.
    Author: Enns GM, Bennett MJ, Hoppel CL, Goodman SI, Weisiger K, Ohnstad C, Golabi M, Packman S.
    Journal: J Pediatr; 2000 Feb; 136(2):251-4. PubMed ID: 10657835.
    Abstract:
    The mitochondrial respiratory chain and the fatty acid oxidation cycle are theoretically interdependent on each other for normal function. We describe a patient with complex I deficiency who had clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency including liver failure, cardiomyopathy, and consistent urine organic acid pattern. Patients with features of either a respiratory chain or fatty acid oxidation disorder should have the defect characterized biochemically because of the implications with respect to potential therapy and genetic counseling.
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