Xanthinuria, Type I

Alternative Names

  • Xanthine Dehydrogenase Deficiency
  • XDH Deficiency
  • Xanthine Oxidase Deficiency
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WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Metabolic disorders

OMIM Number

278300

Mode of Inheritance

Autosomal recessive

Gene Map Locus

2p23.1

Description

Xanthinuria type I is a rare autosomal recessive disorder of purine metabolism that is characterized by excess levels of xanthine and presence of xanthine stones in the urine, leading to renal function deterioration. Surveys suggest a population incidence of 1 in 6,000 to 1 in 69,000, most reported cases are from Mediterranean and Middle Eastern countries. 

Xanthinuria, Type I results from a deficiency of the the xanthine dehydrogenase (XDH), an enzyme that normally catalyzes the terminal two steps of the purine degredation pathway: the formation of xanthine from hypoxanthine and uric acid from xanthine, the normal end-product of purine metabolism.

Epidemiology in the Arab World

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Other Reports

Kuwait

Fildes (1989) reported the case of a 7-month-old Kuwaiti girl with xanthinuria suffering from severe urinary stones at a very young age. 

Lebanon

Frayha et al. (1977) reported three cases with hereditary xanthinuria. In two siblings the disease was asymptomatic; in the third urolithiasis had developed. They noted that hereditary xanthinuria seems to have an increased frequency in persons of Lebanese ancestry.

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