Kelley-Seegmiller Syndrome

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Classification according to ICD-10
E79.8 Other disorders of the purine and pyrimidine metabolism
ICD-10 online (WHO version 2019)

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 name refers to the main authors of the first description from 1967 by the American human geneticists William N. Kelley, Frederick M. Rosenbloom, J. Frank Henderson and J. Edwin Seegmiller .

distribution

The frequency is unknown; inheritance is X-linked - recessive . The male sex is predominantly affected.

root cause

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 manifestations

Clinical criteria are:

diagnosis

Plasma levels and excretion of uric acid , hypoxanthine and xanthine in urine are elevated. The residual activity of the hypoxanthine guanine phosphoribosyl transferase is between 0.5% and 10%.

Differential diagnosis

The following are to be distinguished:

literature

  • 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 .

Individual evidence

  1. ↑ a b c d e Kelley-Seegmiller syndrome. In: Orphanet (Rare Disease Database).
  2. ^ 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).
  3. ↑ Who named it
  4. ↑ HPRT-related gout.  In: Online Mendelian Inheritance in Man . (English)

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