title: Partial hypoxanthine-guanine phosphoribosyl transferase deficiency in two Korean siblings--a new mutation.
abstract: Two Korean siblings with partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency are reported. The index patient was a boy aged 9 years 10 months who developed acute renal failure with a serum uric acid level of 25.9 mg/dl, after vomiting. The younger brother was asymptomatic but had elevated serum uric acid (9.4 mg/dl). The red blood cell HPRT activity of both siblings was one-tenth of normal. Analysis of genomic DNA revealed a point mutation from A (adenine) to G (guanine) at nucleotide position 215 on exon 3; this is a new mutation. The younger brother had the same mutation and the mother was heterozygous for this mutation.
authors.affiliation: Department of Paediatrics, College of Medicine, Seoul National University, Korea.
authors.forename: Y
authors.initials: Y
authors.lastname: Choi
authors.forename: J W
authors.initials: JW
authors.lastname: Koo
authors.forename: I S
authors.initials: IS
authors.lastname: Ha
authors.forename: Y
authors.initials: Y
authors.lastname: Yamada
authors.forename: H
authors.initials: H
authors.lastname: Goto
authors.forename: N
authors.initials: N
authors.lastname: Ogasawara
mesh_terms: D058186:Acute Kidney Injury / Q000209:etiology; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D004247:DNA; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000097:blood / Q000172:deficiency* / Q000235:genetics*; D007723:Korea; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation
chemical_list: D004247:DNA; D007041:Hypoxanthine Phosphoribosyltransferase