title: Neonatal De Toni-Debré-Fanconi syndrome due to a defect in complex III of the respiratory chain.
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.
authors.affiliation: Department of Paediatrics, University Hospital Nijmegen, The Netherlands.
authors.forename: U
authors.initials: U
authors.lastname: Wendel
authors.forename: W
authors.initials: W
authors.lastname: Ruitenbeek
authors.forename: H A
authors.initials: HA
authors.lastname: Bentlage
authors.forename: R C
authors.initials: RC
authors.lastname: Sengers
authors.forename: J M
authors.initials: JM
authors.lastname: Trijbels
mesh_terms: 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
chemical_list: D007773:Lactates; D014450:Electron Transport Complex III