EARLY CLINICAL MANIFESTATION OF GLUTARIC ACIDURIA TYPE-I AND NEPHROTIC SYNDROME DURING THE FIRST MONTHS OF LIFE

We describe a male patient with glutaric aciduria type I which had alr eady presented during the neonatal period with therapy-resistant seizu res. In the course of the disease, he also developed choreoathetosis a nd dystonia, The disease was associated with nephrotic syndrome. Renal histology showed signs of a glomerular disorder with shrinking of glo merular tufts, increase in mesangial matrix, proliferation of extracap illary epithelial cells and formation of larger epithelial crescents. The child died at 22 weeks of age due to end-stage renal failure. This report illustrates an unusual and early clinical manifestation of glu taric aciduria type I and a hitherto unknown association with nephroti c syndrome in early childhood.