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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Abbreviations
- ATP :
-
adenosine triphosphate
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Wendel, U., Ruitenbeek, W., Bentlage, H.A.C.M. et al. Neonatal De Toni-Debré-Fanconi syndrome due to a defect in complex III of the respiratory chain. Eur J Pediatr 154, 915–918 (1995). https://doi.org/10.1007/BF01957505
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DOI: https://doi.org/10.1007/BF01957505