Abstract
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.
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Birch-Machin, M., Shepherd, I., Watmough, N. et al. Fatal Lactic Acidosis in Infancy with a Defect of Complex III of the Respiratory Chain. Pediatr Res 25, 553–559 (1989). https://doi.org/10.1203/00006450-198905000-00025
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DOI: https://doi.org/10.1203/00006450-198905000-00025
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