The Kelley-Seegmiller syndrome (KSS) is a very rare hereditary metabolic disease with a deficiency of hypoxanthine-guanine-phosphoribosyltransferase and clinically hyperuricemia with gout and kidney stones . It can be viewed as a mild form of Lesch-Nyhan syndrome .
Synonyms are: HPRT deficiency, grade I; HPRT deficiency, partial; Hyperuricemia, HPRT dependent; Hypoxanthine-guanine-phosphoribosyltransferase-1 deficiency, partial; Hypoxanthine-guanine-phosphoribosyltransferase deficiency, partial
The disease are mutations in HPRT1 - gene on the X chromosome locus q26.2-q26.3 based encoding for the hypoxanthine-guanine phosphoribosyltransferase. In contrast to the Lesch-Nyhan syndrome, also with mutations in this gene, the activity of the enzyme is still partially (at least 8%) retained.
Clinical criteria are:
- Onset of the disease usually in toddler age with orange crystals in the diaper
- Urolithiasis , uric acid nephropathy, urinary tract infection, and obstruction of the lower urinary tract
- post puberty gout with acute arthritis or tophi
- varying degrees of attention deficit
- no neurological abnormalities
The following are to be distinguished:
- Glucose-6-phosphate dehydrogenase deficiency
- Lesch-Nyhan syndrome
- Lack of phosphoribosyl - synthetase
- J. Brunner, D. Lotschütz: Kelley-Seegmiller Syndrome. In: Clinical Pediatrics. Vol. 220, No. 1, 2008 Jan-Feb, pp. 21-23, doi: 10.1055 / s-2007-973070 , PMID 17687757 .
- M. Kurajoh, H. Koyama, M. Hatayama, H. Okazaki, T. Shoji, Y. Moriwaki, T. Yamamoto, T. Nakayama, M. Namba: Partial HPRT Deficiency with a Novel Mutation of the HPRT Gene in Combination with Four Previously Reported Variants Associated with Hyperuricemia. In: Internal medicine. Vol. 54, No. 12, 2015, pp. 1523-1526, doi: 10.2169 / internalmedicine.54.3290 , PMID 26073243 .
- RJ Torres, MG Garcia, JG Puig: Partial HPRT deficiency phenotype and incomplete splicing mutation. In: Nucleosides, nucleotides & nucleic acids. Vol. 29, No. 4-6, June 2010, pp. 295-300, doi: 10.1080 / 15257771003730250 , PMID 20544510 .
- R. Saigal, A. Chakraborty, RN Yadav, RK Prashant: Partial HPRT deficiency (Kelley-Seegmiller syndrome). In: The Journal of the Association of Physicians of India. Vol. 54, January 2006, pp. 49-52, PMID 16649740 .
- Kelley-Seegmiller syndrome. In: Orphanet (Rare Disease Database).
- WN Kelley, FM Rosenbloom, JF Henderson, JE Seegmiller: A specific enzyme defect in gout associated with overproduction of uric acid. In: Proceedings of the National Academy of Sciences . Vol. 57, No. 6, June 1967, pp. 1735-1739, PMID 4291947 , PMC 224540 (free full text).
- Who named it
- HPRT-related gout. In: Online Mendelian Inheritance in Man . (English)