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.
Campistol
J
J
Servicio Neuropediatria, Hospital Sant Joan de Deu, Barcelona, Spain.
Ribes
A
A
Alvarez
L
L
Christensen
E
E
Millington
D S
DS
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
D005977:Glutarates; D010088:Oxidoreductases; D044925:Oxidoreductases Acting on CH-CH Group Donors; D050770:Glutaryl-CoA Dehydrogenase; C035736:glutaric acid; D002331:Carnitine