Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

J Pediatr. 2000 Feb;136(2):251-4. doi: 10.1016/s0022-3476(00)70111-9.

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.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • 3-Hydroxyacyl CoA Dehydrogenases / deficiency*
  • Electron Transport
  • Fatty Acids / metabolism
  • Humans
  • Infant
  • Male
  • NADH, NADPH Oxidoreductases / deficiency*

Substances

  • Fatty Acids
  • 3-Hydroxyacyl CoA Dehydrogenases
  • NADH, NADPH Oxidoreductases