Fatal Lactic Acidosis in Infancy with a Defect of Complex III of the Respiratory Chain

@article{BirchMachin1989FatalLA,
  title={Fatal Lactic Acidosis in Infancy with a Defect of Complex III of the Respiratory Chain},
  author={Mark A Birch-Machin and Isobel M Shepherd and Nicholas J. Watmough and H Stanley A Sherratt and Kim Bartlett and Victor M. Darley-Usmar and David W A Milligan and Robert J. Welch and Albert Aynsley-Green and Douglass Matthew Turnbull},
  journal={Pediatric Research},
  year={1989},
  volume={25},
  pages={553-559}
}
ABSTRACT: We report our studies on the metabolic defects which caused a newborn infant to present with a severe lactic acidemia (25 mM) and to die on the 3rd d after birth despite intensive supportive measures. The mitochondrial fractions prepared from skeletal muscle and liver oxidised NAD+-linked substrates and succinate slowly. Spectrophotometric assays for complexes I, II, and HI of the respiratory chain demonstrate a specific defect of complex III in the skeletal muscle and liver… CONTINUE READING