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| 2,8 dihydroxy-adenine urolithiasis ： ウィキペディア英語版 |
Adenine phosphoribosyltransferase deficiency
Adenine phosphoribosyltransferase deficiency (also called APRT deficiency or 2,8 dihydroxyadenine urolithiasis) is an autosomal recessive metabolic disorder associated with a mutation in the enzyme adenine phosphoribosyltransferase.
==Characteristics==
The disorder results in accumulation of the insoluble purine 2,8-dihydroxyadenine.
It can result in nephrolithiasis (kidney stones), acute renal failure and permanent kidney damage.
More than 300 individuals with this disease have been reported world-wide but it is not known how common this medical problem truly is. Patients with the disease deficiency lack the enzyme adenine phosphoribosyltransferase and therefore have difficulties breaking down dietary substances called purines, resulting in accumulation of a compound called 2,8-dihydroxyadenine (2,8-DHA) that is excreted by the kidneys. Interestingly, up to 70% of affected patients, have red hair or relatives with this hair color.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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