HPRT-Deficiency associated with normal PRPP concentration and APRT activity

Gordon R.B., Keough D.T. and Emmerson B.T. (1987) HPRT-Deficiency associated with normal PRPP concentration and APRT activity. Journal of Inherited Metabolic Disease, 10 1: 82-88. doi:10.1007/BF01799493

Author Gordon R.B.
Keough D.T.
Emmerson B.T.
Title HPRT-Deficiency associated with normal PRPP concentration and APRT activity
Journal name Journal of Inherited Metabolic Disease   Check publisher's open access policy
ISSN 0141-8955
Publication date 1987-01-01
Sub-type Article (original research)
DOI 10.1007/BF01799493
Volume 10
Issue 1
Start page 82
End page 88
Total pages 7
Publisher Kluwer Academic Publishers
Subject 2716 Genetics (clinical)
1311 Genetics
1310 Endocrinology
Abstract Deficiencies of HPRT are usually associated with increased concentrations of PRPP and increased levels of APRT activity in erythrocytes. We report the case of a male with a partial deficiency of HPRT in whom these two parameters were normal. The clinical features of this patient were those associated with severe hyperuricaemia and gout. Studies of intact erythrocytes showed rates of incorporation of [14C]hypoxanthine and of [14C]adenine into purine nucleotides which were almost indistinguishable from normal. However, HPRT activity in erythrocyte lysates was only 9% of normal. In cell extracts of cultured lymphoblasts, the HPRT activity was 20% of control values and the APRT activity was normal. The PRPP concentration and the rate of de novo purine synthesis in cultured lymphoblasts were both intermediate between controls and lymphoblasts from patients with the Lesch-Nyhan syndrome.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
Collection: Scopus Import
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Citation counts: Scopus Citation Count Cited 6 times in Scopus Article | Citations
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