Glutaric aciduria type I: unusual biochemical presentation.
Por:
Campistol-Plana J, Ribes A, LUISA ALVAREZ DOMINGUEZ, Christensen E and Millington DS
Publicada:
1 jul 1992
Resumen:
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.
|