1. Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency
- Author
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Iwaki, Takuma, Kusaka, Takashi, Ohashi, Ikuko, Nishida, Tomoko, Imai, Tadashi, and Itoh, Susumu
- Subjects
Gene mutations ,Enzymes ,Genetic screening ,Purines ,Health - Abstract
Adenine phosphoribosyltransferase deficiency is a disorder in which 2,8-dihydroxyadenine (2,8-DHA) crystalluria is caused by a congenital deficiency in the enzyme adenine phosphoribosyltransferase (APRT). In most cases, APRT deficiency is caused by autosomal recessive inheritance of a homozygote of the mutant gene APRT*Q0 or APRT*J, but there are also some cases in which the disorder is caused by the compound heterozygote APRT*Q0 and APRT*J. In the patients described here, brown round crystals were found in their urinary sediment. Crystalluria was the first sign of APRT deficiency, thereafter confirmed by genetic screening for APRT*/Q0 and APRT*. We performed genetic screening for APRT*Q0 and APRT*J in two families and diagnosed three cases of APRT* Q0/APRT*J compound heterozygote-type APRT deficiency. Genetic screening for APRT*Q0 and APRT*J of family members is effective for early diagnosis and early treatment for family members. Keywords Adenine phosphoribosyltransferase deficiency. APRT*Q0 * APRT*J * 2,8-Dihydroxyadenine * Compound heterozygote * Crystalluria * Renal failure, Introduction Adenine phosphoribosyltransferase deficiency is an autosomal recessive disorder in which 2,8-dihydroxyadenine (2,8-DHA) crystalluria is caused by a congenital deficiency in the enzyme adenine phosphoribosyltransferase (APRT). Since APRT deficiency can [...]
- Published
- 2010
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