title: Early clinical manifestation of glutaric aciduria type I and nephrotic syndrome during the first months of life.
abstract: We describe a male patient with glutaric aciduria type I which had already presented during the neonatal period with therapy-resistant seizures. In the course of the disease, he also developed choreoathetosis and dystonia. The disease was associated with nephrotic syndrome. Renal histology showed signs of a glomerular disorder with shrinking of glomerular tufts, increase in mesangial matrix, proliferation of extracapillary 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 glutaric aciduria type I and a hitherto unknown association with nephrotic syndrome in early childhood.
authors.affiliation: Division of Metabolic Diseases, University Children's Hospital, and Institute of Pathology, University of Heidelberg, Germany.
authors.forename: A P
authors.initials: AP
authors.lastname: Pöge
authors.forename: F
authors.initials: F
authors.lastname: Autschbach
authors.forename: H
authors.initials: H
authors.lastname: Korall
authors.forename: F K
authors.initials: FK
authors.lastname: Trefz
authors.forename: E
authors.initials: E
authors.lastname: Mayatepek
mesh_terms: D017809:Fatal Outcome; D050770:Glutaryl-CoA Dehydrogenase; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000473:pathology; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000473:pathology; D009404:Nephrotic Syndrome / Q000150:complications* / Q000175:diagnosis / Q000473:pathology; D010088:Oxidoreductases / Q000172:deficiency*; D044925:Oxidoreductases Acting on CH-CH Group Donors
chemical_list: D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase