Ap. Poge et al., EARLY CLINICAL MANIFESTATION OF GLUTARIC ACIDURIA TYPE-I AND NEPHROTIC SYNDROME DURING THE FIRST MONTHS OF LIFE, Acta paediatrica, 86(10), 1997, pp. 1144-1147
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.