Fatal lactic acidosis in infancy with a defect of complex III of the respiratory chain

Academic Article

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 mitochon­drial fractions. The concentrations of cytochrome b were 75% lower in the skeletal muscle and heart mitochondria than in control preparations. The amount of non-heme iron sulphur protein of complex III was low in skeletal muscle, liver, and heart. This case differs from previous reports of complex III deficiency in three respects: the patient pre­sented in the neonatal period, the defect was expressed in several tissues, and it was fatal. Copyright © 1989 International Pediatric Research Foundation, Inc.
  • Published In

  • Pediatric Research  Journal
  • Digital Object Identifier (doi)

    Author List

  • Birch-Machin MA; Shepherd IM; Watmough NJ; Sherratt HSA; Bartlett K; Darley-Usmar VM; Milligan DWA; Welch RJ; Aynsley-Green A; Turnbull DM
  • Start Page

  • 553
  • End Page

  • 559
  • Volume

  • 25
  • Issue

  • 5