Neonatal De Toni-Debré-Fanconi syndrome due to a defect in complex III of the respiratory chain

• Published in: European journal of pediatrics Vol. 154; no. 11; pp. 915 - 918
• Main Authors: WENDEL, U, RUITENBEEK, W, BENTLAGE, H. A. C. M, SENGERS, R. C. A, TRIJBELS, J. M. F
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 01-11-1995; Berlin
• Subjects: Biological and medical sciences; Electron Transport - physiology; Electron Transport Complex III - deficiency; Fanconi Syndrome - etiology; Humans; Infant; Lactates - blood; Liver - metabolism; Male; Medical sciences; Muscles - metabolism; Nephrology. Urinary tract diseases; Nephropathies. Renovascular diseases. Renal failure; Tubulopathies; Human; Urinary system disease; Pathogenesis; Deficiency; Tubulopathy; Metabolic diseases; Renal disease; De Toni Debre Fanconi syndrome; Mitochondrial disorder; Case study; Respiratory chain; Newborn; Etiology; Aminoacid disorder; Aminoaciduria
• ISSN: 0340-6199; 1432-1076
• DOI: 10.1007/BF01957505

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.