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

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 III 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.

• Authors: M A Birch-Machin, I M Shepherd, N J Watmough, H S Sherratt, K Bartlett, V M Darley-Usmar, D W Milligan, R J Welch, A Aynsley-Green, D M Turnbull
• Journal: Pediatric research (Pediatr Res) Vol. 25 Issue 5 Pg. 553-9 (May 1989) ISSN: 0031-3998 [Print] United States
• PMID: 2541396 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Cytochromes
• Electron Transport Complex III

Topics

• Acidosis, Lactic (etiology)
• Cytochromes (analysis)
• Electron Transport
• Electron Transport Complex III (analysis, deficiency)
• Humans
• Infant, Low Birth Weight
• Infant, Newborn
• Male
• Mitochondria (analysis)