Encephalopathy due to hydroxykynureninuria

Encephalopathy due to hydroxykynureninuria is characterized by psychomotor retardation and nonprogressive encephalopathy associated with urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine, and xanthurenic acid. It has been described in less than 30 patients. Other manifestations may include muscular hypertonia, headaches and stereotyped gestures. This disorder is transmitted as an autosomal recessive trait. It is caused by a defect in kynureninase, an enzyme of the tryptophane catabolic pathway.

Also known as: Xanthurenic aciduria, kynureninase deficiency, hydroxykynureninuria, kynureninase deficiency, partial

0 clinical trials for this condition and its sub-types, 0 tagged with Encephalopathy due to hydroxykynureninuria itself.