Article
Partial adenine phosphoribosyltransferase deficiency detected by ureterolithiasis.
Internal medicine (Tokyo, Japan) - 1 Jan 1998
Inagaki K, Muraoka A, Suehiro I, Fujii M, Ueno H, Hosooka T, Kida K, Murakami K
Abstract excerpt
A 30-year-old woman was admitted to our hospital because of recurrent ureterolithiasis. She was suspected of having adenine phosphoribosyltransferase (APRT) deficiency based on the presence of 2,8-dihydroxyadenine (DHA) crystals in her urinary sediment, infrared spectrophotometric analysis of the...
Topics
- Adenine
- Adenine Phosphoribosyltransferase
- Adult
- Alleles
- Base Sequence
- DNA
- Female
- Humans
- Male
- Molecular Sequence Data
- Pedigree
- Phenotype
- Purine-Pyrimidine Metabolism, Inborn Errors
- Recurrence
- Ureteral Calculi