Identification of a new mutation in the human xanthine dehydrogenase responsible for xanthinuria type I.

ABSTRACT:

Objectives

Hereditary xanthinuria is a rare, autosomal and recessive disorder characterized by severe hypouricemia and increased xanthine excretion, caused by a deficiency of xanthine dehydrogenase/oxidase (XDH/XO, EC: 1.17.1.4/1.17.3.2) in type I, or by a deficiency of XDH/XO and aldehyde oxidase (AOX, EC: 1.2.3.1) in type II.

Methods

We describe a novel point mutation in the XDH gene in homozygosis found in a patient with very low serum and urine levels of uric acid, together with xanthinuria. He was asymptomatic but renal calculi were discovered during imaging.

Results

Additional cases were found in his family and dietary recommendations were made in order to prevent further complications.

Conclusions

Hereditary xanthinuria is an underdiagnosed pathol

SUBMITTER: Collazo Abal C 

PROVIDER: S-EPMC10197278 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature