Neonatal De Toni-Debré-Fanconi syndrome due to a defect in complex III of the respiratory chain.
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.
Wendel
U
U
Department of Paediatrics, University Hospital Nijmegen, The Netherlands.
Ruitenbeek
W
W
Bentlage
H A
HA
Sengers
R C
RC
Trijbels
J M
JM
D004579:Electron Transport / Q000502:physiology*; D014450:Electron Transport Complex III / Q000172:deficiency*; D005198:Fanconi Syndrome / Q000209:etiology*; D006801:Humans; D007223:Infant; D007773:Lactates / Q000097:blood; D008099:Liver / Q000378:metabolism; D008297:Male; D009132:Muscles / Q000378:metabolism
D007773:Lactates; D014450:Electron Transport Complex III