title: Glutaric aciduria type I: unusual biochemical presentation.
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.
authors.affiliation: Servicio Neuropediatria, Hospital Sant Joan de Deu, Barcelona, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Campistol
authors.forename: A
authors.initials: A
authors.lastname: Ribes
authors.forename: L
authors.initials: L
authors.lastname: Alvarez
authors.forename: E
authors.initials: E
authors.lastname: Christensen
authors.forename: D S
authors.initials: DS
authors.lastname: Millington
mesh_terms: D002331:Carnitine / Q000097:blood / Q000652:urine; D003937:Diagnosis, Differential; D005347:Fibroblasts / Q000201:enzymology; D005977:Glutarates / Q000097:blood / Q000134:cerebrospinal fluid / Q000652:urine*; D050770:Glutaryl-CoA Dehydrogenase; D006801:Humans; D007223:Infant; D008297:Male; D010088:Oxidoreductases / Q000172:deficiency*; D044925:Oxidoreductases Acting on CH-CH Group Donors; D012867:Skin / Q000473:pathology
chemical_list: D005977:Glutarates; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase; C035736:glutaric acid; D002331:Carnitine