Glutaric aciduria type I: unusual biochemical presentation.

Journal Article (Journal Article)

We describe a patient with glutaryl-coenzyme A dehydrogenase deficiency, demonstrated by a residual enzyme activity of only 1% in cultured fibroblasts. Although the clinical presentation was typical of glutaric aciduria type I, the urine concentrations of glutaric, glutaconic, and 3-hydroxyglutaric acids remained normal, even during episodes of clinical decompensation. An increased free glutarate level was demonstrated only in cerebrospinal fluid.

Full Text

Duke Authors

Cited Authors

  • Campistol, J; Ribes, A; Alvarez, L; Christensen, E; Millington, DS

Published Date

  • July 1992

Published In

Volume / Issue

  • 121 / 1

Start / End Page

  • 83 - 86

PubMed ID

  • 1625098

International Standard Serial Number (ISSN)

  • 0022-3476

Digital Object Identifier (DOI)

  • 10.1016/s0022-3476(05)82548-x


  • eng

Conference Location

  • United States