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  • Title: Neonatal De Toni-Debré-Fanconi syndrome due to a defect in complex III of the respiratory chain.
    Author: Wendel U, Ruitenbeek W, Bentlage HA, Sengers RC, Trijbels JM.
    Journal: Eur J Pediatr; 1995 Nov; 154(11):915-8. PubMed ID: 8582406.
    Abstract:
    A patient with neonatal expression of severe De Toni-Debré-Fanconi syndrome is presented. Because of early signs of renal tubulopathy together with a large urinary excretion of lactate, 3-hydroxybutyrate and citric acid cycle intermediates, a mitochondrial disorder was suspected and muscle and liver biopsies were performed. Biochemical investigations in both tissues revealed a defect in the respiratory chain at the level of complex III. In this patient renal dysfunction was the primary symptom, and hyperlactataemia, an important clue for a mitochondrial disorder, was lacking. CONCLUSION. Complex III deficiency should be included in the differential diagnosis of neonatal De Toni-Debré-Fanconi syndrome.
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