orotic aciduria

If UMP synthase is defective, orotic aciduria can result.

Orotic aciduria refers to an excessive excretion of orotic acid in urine.

Defective UMP synthase can result in orotic aciduria, a metabolic disorder.

We suspect that this proband's 3-MGC aciduria reflects a defect in mitochondrial energy metabolism and that her mild orotic aciduria may be a nonspecific marker of mitochondrial dysfunction.

You can distinguish this increase in orotic acid secondary to OTC deficiency from hereditary orotic aciduria (seen above) by looking at blood ammonia levels and the BUN (blood urea nitrogen).