Xanthinuria
A rare metabolic disorder that is caused by lack of an enzyme needed to process xanthine, an alkaloid found in caffeine; theobromine; theophylline; and related substances. Unchecked, xanthinuria can lead to kidney stone formation. Treatment involves avoiding foods and drinks that contain xanthine derivatives, such as coffee, tea, and cola. Classic xanthinuria is inherited in an autosomal recessive manner and involves a defect in the enzyme xanthine dehydrogenase.
Read Also:
- Xanthoma
Yellowish firm nodules in the skin frequently indicating underlying disease, such as diabetes, disorder of fats (lipid disorder or hyperlipidemia), or other conditions. A xanthoma is a kind of harmless growth of tissue. Under the microscope, a xanthoma can be seen to be composed of lipid-laden foam cells. These cells, termed histiocytes, contain lipid material […]
- Xanthoma tendinosum
Xanthoma that clusters around tendons and is associated with lipid disorders, including chronically elevated blood cholesterol levels.
- Xanthoma tuberosum
Xanthoma that clusters near joints and is associated with lipid disorders, cirrhosis of the liver, and thyroid disorders.
- Xanthoma, diabetic
Xanthoma that is associated with poorly controlled diabetes mellitus. Treating the diabetes causes diabetic xanthomas to disappear.
- Xanthoma, disseminatum
A type of xanthoma characterized by orange-to-brown nodules on the skin or mucus membranes.