| 603592 | ||||||
| XANTHINURIA, TYPE II | ||||||
| Alternative titles; symbols | ||||||
| XANTHINE DEHYDROGENASE AND ALDEHYDE OXIDASE, COMBINED DEFICIENCY OF | ||||||
| TEXT | ||||||
| Two clinically similar but distinct forms of xanthinuria are recognized. In type I xanthinuria (278300), there is an isolated deficiency of xanthine dehydrogenase; in type II, there is a dual deficiency of xanthine dehydrogenase and aldehyde oxidase. Type I patients can metabolize allopurinol, whereas type II patients cannot (Simmonds et al., 1995). Beaudet (1999) indicated that the mutation in type II xanthinuria may not be in the structural gene for either xanthine dehydrogenase or aldehyde oxidase, but possibly in the mechanism responsible for inserting the essential sulfur atom into the active center of both enzymes. | ||||||
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