Xanthinuria, also known as xanthine oxidase deficiency, is a rare genetic disorder causing the accumulation of xanthine. It is caused by a deficiency of the enzyme xanthine oxidase. It was first formally characterized in 1954. Presentation
Sufferers have unusually high concentrations of xanthine in their blood and urine, which can lead to health problems such as renal failure and xanthine kidney stones, one of the rarest types of kidney stones. Causes
Type I xanthinuria can be caused by a deficiency of xanthine oxidase, which is an enzyme necessary for converting xanthine to uric acid. Type II xanthinuria and molybdenum cofactor deficiency lack one or two other enzyme activities in addition to xanthine oxidase. Treatment
There is no specific treatment beyond maintaining a high fluid intake and avoiding foods that are high in purine. References
External links

Xanthinuria at NIHs Office of Rare Diseases
Because the defective genes involved in certain forms of ML are known, tests can identify people who are carriers in some instances. Diagnosis
The diagnosis of ML is based on clinical symptoms, a complete medical history, and certain laboratory tests. Symptoms of the disease are usually present at birth or begin in early childhood. Early symptoms can include skeletal abnormalities, vision problems, and developmental delays. Poor mental capacities, and difficulty reaching physical developmental milestones may also be result of mucolipidosis. Treatment
There is currently no known treatment or specific therapy to cure this disease. However, there are multiple therapy techniques that can be used to help with some of the symptoms. Speech therapy and physical therapy may aid in a diagnosed childs motor and speech delays. Nutritional supplements such as iron and vitamin B12 may also be required if the patient needs them. See also
Medical genetics of Ashkenazi Jews
mucolipidoses at NINDS

References


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