Partial hypoxanthine-guanine phosphoribosyltransferase deficiency

Common Name(s)

Partial hypoxanthine-guanine phosphoribosyltransferase deficiency

Virtually complete deficiency of HPRT residual activity is associated with the Lesch-Nyhan syndrome (LNS; {300322}), whereas partial deficiency (at least 8%) is associated with the Kelley-Seegmiller syndrome. LNS is characterized by abnormal metabolic and neurologic manifestations. In contrast, Kelley-Seegmiller syndrome is usually associated only with the clinical manifestations of excessive purine production. Renal stones, uric acid nephropathy, and renal obstruction are often the presenting symptoms of Kelley-Seegmiller syndrome, but rarely of LNS. After puberty, the hyperuricemia in Kelley-Seegmiller syndrome may cause gout (summary by {6:Zoref-Shani et al., 2000}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Partial hypoxanthine-guanine phosphoribosyltransferase deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Partial hypoxanthine-guanine phosphoribosyltransferase deficiency" returned 2 free, full-text research articles on human participants. First 3 results:

Biochemical and molecular study of mentally retarded patient with partial deficiency of hypoxanthine-guanine phosphoribosyltransferase.
 

Author(s): Vanna Micheli, Birgit S Gathof, Marina Rocchigiani, Gabriella Jacomelli, Silvia Sestini, Luana Peruzzi, Laura Notarantonio, Barbara Cerboni, Giuseppe Hayek, Giuseppe Pompucci

Journal: Biochim. Biophys. Acta. 2002 May;1587(1):45-52.

 

Nucleotide metabolism was studied in erythrocytes of a mentally retarded child and family members. Partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency was found in the propositus and an asymptomatic maternal uncle. Studies in crude lysates demonstrated decreased ...

Last Updated: 31 Dec 1969

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Partial deficiency of hypoxanthine-guanine phosphoribosyltransferase manifesting as acute renal damage.
 

Author(s): M Hikita, T Hosoya, K Ichida, H Okabe, M Saji, I Ohno, S Kuriyama, H Tomonari, F Hayashi, K Onouchi, S Fujimori, N Yamaoka, R Sakuma

Journal: Intern. Med.. 1998 Nov;37(11):945-9.

 

A 32-year-old man who had had frequent gouty arthritis over the past 17 years, was admitted for acute renal failure. Acute renal failure was improved rapidly after medication was resumed and the patient was sufficiently hydrated. The hypoxanthine-guanine phosphoribosyltransferase ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

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The terms "Partial hypoxanthine-guanine phosphoribosyltransferase deficiency" returned 0 free, full-text review articles on human participants.

 
 
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