NEONATAL FANCONI-SYNDROME DUE TO DEFICIENCY OF COMPLEX III OF THE RESPIRATORY-CHAIN

Fanconi syndrome is an important presentation of respiratory chain dis ease, We report three patients who presented in the neonatal period wi th Fanconi syndrome, lactic acidosis and intrauterine growth retardati on. In all three patients the major biochemical defect was in complex III of the mitochondrial respiratory chain, a relatively uncommon defe ct, The diagnosis could only be made by muscle biopsy as the defect wa s not expressed in cultured skin fibroblasts. Treatment with vitamins C and K-3 and ubiquinone did not alter the course of the disease and a ll patients died before the age of 4 months.