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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Glutaric aciduria type I: unusual biochemical presentation.

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.[1]


  1. Glutaric aciduria type I: unusual biochemical presentation. Campistol, J., Ribes, A., Alvarez, L., Christensen, E., Millington, D.S. J. Pediatr. (1992) [Pubmed]
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