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  • Title: Glutaric aciduria type I: unusual biochemical presentation.
    Author: Campistol J, Ribes A, Alvarez L, Christensen E, Millington DS.
    Journal: J Pediatr; 1992 Jul; 121(1):83-6. PubMed ID: 1625098.
    Abstract:
    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.
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