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  • Title: Reversible fulminant lactic acidosis and liver failure in an infant with hepatic cytochrome-c oxidase deficiency.
    Author: Lev D, Gilad E, Leshinsky-Silver E, Houri S, Levine A, Saada A, Lerman-Sagie T.
    Journal: J Inherit Metab Dis; 2002 Sep; 25(5):371-7. PubMed ID: 12408186.
    Abstract:
    Cytochrome-c oxidase (COX) is the most common respiratory chain complex involved in liver failure, either as a single enzyme deficiency or as part of multiple enzyme deficiencies. We describe an infant who presented with fulminant lactic acidosis in the neonatal period. The lactic acidosis resolved spontaneously but liver and pancreatic insufficiency ensued. Isolated cytochrome-c oxidase deficiency was found in liver but not in muscle and fibroblasts. mtDNA rearrangements or depletion were ruled out. By the age of one year, liver and pancreatic functions have normalized completely and neurodevelopment is normal.
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