Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome

Orphanet Journal of Rare Diseases

Volumn 2, Issue 1, 2007, Pages

  Torres, Rosa J ^a   Puig, Juan G ^a  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; PURINE DERIVATIVE;

GENETIC COUNSELING; GENETICS; HOSPITALIZATION; HUMAN; HYPERURICEMIA; LESCH NYHAN SYNDROME; MALE; METABOLISM; MUTATION; PATHOPHYSIOLOGY; REVIEW;

GENETIC COUNSELING; HUMANS; HYPERURICEMIA; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; LESCH-NYHAN SYNDROME; MALE; MUTATION; PURINES; SEVERITY OF ILLNESS INDEX;

EID: 39049126490     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-2-48     Document Type: Review

References (87)

1. A familial disorder of uric acid metabolism and central nervous system function. M Lesch WL Nyhan, Am J Med 1964 36 561 570 10.1016/0002-9343(64)90104- 4 14142409
2. Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. JE Seegmiller FM Rosenbloom WN Kelley, Science 1967 155 1682 1684 10.1126/science.155.3770.1682 6020292
3. A specific enzyme defect in gout associated with overproduction of uric acid. WN Kelley FM Rosenbloom JF Henderson JE Seegmiller, Proc Natl Acad Sci USA 1967 57 1735 1739 4291947 10.1073/pnas.57.6.1735
4. Hypoxanthine-guanine phosphoribosyltransferase deficiency in gout. WN Kelley ML Greene FM Rosenbloom JF Henderson JE Seegmiller, Ann Intern Med 1969 70 155 206 4884382
5. On familial gouty diathesis associated with cerebral and renal symptoms in a small child. W Catel J Schmidt, Dtsch Med Wochenschr 1959 84 2145 2147 13808396
6. Delineation of the motor disorder of Lesch-Nyhan disease. HA Jinnah JE Visser JC Harris A Verdu L Larovere I Ceballos-Picot P Gonzalez-Alegre V Neychev RJ Torres O Dulac I Desguerre DJ Schretlen KL Robey G Barabas BR Bloem W Nyhan R De Kremer GE Eddey JG Puig SG Reich Lesch-Nyhan Disease International Study Group, Brain 2006 129 1201 1217 10.1093/brain/awl056 16549399
7. Hereditary choreoathetosis, self-mutilation and hyperuricemia in young males. D Hoefnagel ED Andrew NG Mireault WO Berndt, N Engl J Med 1965 273 130 135 14303658
8. Molecular Analysis of a female Lesch-Nyhan patients. N Ogasawara JT Stout H Goto SI Sonta A Matsumoto CT Caskey, J Clin Invest 1989 84 1024 1027 2760209
9. Molecular, biochemical, and genetic characterization of a female patient with Lesch-Nyhan disease. C Rinat E Zoref-Shani Z Ben-Neriah Y Bromberg R Becker-Cohen S Feinstein O Sperling Y Frishberg, Mol Genet Metab 2006 87 249 252 10.1016/j.ymgme.2005.09.025 16343967
10. Lesch-Nyhan disease in a female with a clinically normal monozygotic twin. L De Gregorio HA Jinnah JC Harris WL Nyhan DJ Schretlen LM Trombley JP O'Neill, Mol Genet Metab 2005 85 70 77 10.1016/j.ymgme.2004.11.009 15862283
11. An unexpected affected female patient in a classical Lesch-Nyhan family. L De Gregorio WL Nyhan E Serafin NA Chamoles, Mol Genet Metab 2000 69 263 268 10.1006/mgme.2000.2967 10767182
12. Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient. B Aral G de Saint Basile S Al-Garawi P Kamoun I Ceballos-Picot, Hum Mutat 1996 7 52 58 10.1002/(SICI)1098-1004(1996)7:1<52:: AID-HUMU7>3.0.CO;2-R 8664901
13. A female case of the Leach-Nyhan syndrome. K Hara S Kashiwamata N Ogasawara H Ohishi R Natsume T Yamanaka S Hakamada S Miyazaki K Watanabe, Tohoku J Exp Med 1982 137 275 282 7112549
14. Lesch-Nyhan syndrome in a girl. P van Bogaert I Ceballos I Desguerre L Telvi P Kamoun G Ponsot, J Inherit Metab Dis 1992 15 790 791 10.1007/BF01800022 1434518
15. A female patient with Lesch-Nyhan syndrome. T Yukawa H Akazawa Y Miyake Y Takahashi H Nagao E Takeda, Dev Med Child Neurol 1992 34 543 546 1612215
16. Diagnosis and treatment of the Lesch-Nyhan syndrome. JC Crawhall JF Henderson WN Kelley, Pediatr Res 1972 6 504 513 10.1203/00006450-197205000-00004 4558815
17. Lesch-Nyhan disease and its variants. HA Jinnah T Friedmann, The metabolic and molecular basis of inherited disease McGraw-Hill, New York, Scriver CR, Beaudet AL, Sly WS, Valle D, 8 2000 2537 2570
18. The spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families. J García Puig R Torres Jiménez F Mateos T Ramos J Arcas A Bũo P O'Neill, Medicine (Balt) 2001 80 102 112 10.1097/00005792-200103000-00003
19. Hypoxanthine-guanine phosphoribosyltransferase variants: correlation of clinical phenotype with enzyme activity. T Page B Bakay E Nissinen WL Nyhan, J Inherit Metab Dis 1981 4 203 206 10.1007/BF02263652 6796771
20. Neurocognitive functioning in Lesch-Nyhan disease and partial hypoxanthine-guanine phosphoribosyltransferase deficiency. DJ Schretlen JC Harris KS Park HA Jinnah NO del Pozo, J Int Neuropsychol Soc 2001 7 805 812 10.1017/S135561770177703X 11771623
21. Cognitive functioning in Lesch-Nyhan syndrome: a 4-year follow-up study. WS Matthews A Solan G Barabas K Robey, Dev Med Child Neurol 1999 41 260 262 10.1017/S0012162299000547 10355810
22. Cognitive abilities of patients with Lesch-Nyhan disease. LT Anderson M Ernst SV Davis, J Autism Dev Disord 1992 22 189 203 10.1007/BF01058150 1624404
23. Self-injury in Lesch-Nyhan disease. LT Anderson M Ernst, J Autism Dev Disord 1994 24 67 81 10.1007/BF02172213 8188575
24. Self-injurious behavior: gene-brain-behavior relationships. SR Schroeder ML Oster-Granite G Berkson JW Bodfish GR Breese MF Cataldo EH Cook LS Crnic I DeLeon W Fisher JC Harris RH Horner B Iwata HA Jinnah BH King JM Lauder MH Lewis K Newell WL Nyhan J Rojahn GP Sackett C Sandman F Symons RE Tessel T Thompson DF Wong, Ment Retard Dev Disabil Res Rev 2001 7 3 12 10.1002/1098-2779(200102)7: 1<3::AID-MRDD1002>3.0.CO;2-# 11241877
25. A review of behavioral treatments used for Lesch-Nyhan syndrome. L Olson D Houlihan, Behav Modif 2000 24 202 222 10.1177/0145445500242003 10804680
26. Megaloblastic anaemia in the Lesch-Nyhan syndrome. SP van der Zee ED Schretlen LA Monnens, Lancet 1968 1 1427 10.1016/S0140-6736(68)92002-3 4173010
27. Hyperuricemia and gout. MA Becker BJ Roessler, The Metabolic and Molecular Basis of Inherited Disease New York, McGraw-Hill, Scriver CR, Beaudet AL, Sly WS, Valle D, 7 1995 1192
28. Biochemical bases of accelerated purine biosynthesis de novo in human fibroblasts lacking hypoxanthine-guanine phosphoribosyltransferase. FM Rosenbloom JF Henderson IC Caldwell WN Kelley JE Seegmiller, J Biol Chem 1968 243 1166 1173 5650894
29. Lesch-Nyhan disease and the basal ganglia. JE Visser PR Bar HA Jinnah, Brain Res Rev 2000 32 449 475 10.1016/S0165-0173(99)00094-6 10760551
30. Dopamine function in Lesch-Nyhan disease. WL Nyhan, Environ Health Perspect 2000 108 Suppl 3 409 411 10852837 10.2307/3454529
31. Clinical, post-mortem, biochemical and therapeutic observations on the Lesch-Nyhan syndrome with particular reference to the neurological manifestations. RW Watts E Spellacy DA Gibbs J Allsop RO McKeran GE Slavin, Q J Med 1982 51 201 43 78 7111674
32. Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome. KG LLoyd O Hornykiewicz L Davidson K Shannak I Farley M Goldstein M Shibuya WN Kelley IH Fox, N Engl J Med 1981 305 1106 1111 6117011
33. Lesch-Nyhan syndrome: CSF neurotransmitter abnormalities. FS Silverstein MV Johnston RJ Hutchinson NL Edwards, Neurology 1985 35 907 911 2582310
34. Lesch Nyhan syndrome: a study of motor behavior and cerebrospinal fluid neurotransmitters. J Jankovic CT Caskey JT Stout IJ Butler, Ann Neurol 1988 23 466 469 10.1002/ana.410230507 2455472
35. Presynaptic dopaminergic deficits in Lesch-Nyhan disease. M Ernst AJ Zametkin JA Matochik D Pascualvaca PH Jons C Hardy JG Hankerson DJ Doudet RM Cohen, New Engl J Med 1996 334 1568 1572 10.1056/NEJM199606133342403 8628337
36. Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo. DF Wong JC Harris S Naidu F Yokoi S Marenco RF Dannals HT Ravert M Yaster A Evans O Rousset RN Bryan A Gjedde MJ Kuhar GR Breese, Proc Natl Acad Sci USA 1996 93 5539 5543 8643611 10.1073/pnas.93.11.5539
37. A dopamine deficiency model of Lesch-Nyhan disease - the neonatal-6-OHDA-lesioned rat. GR Breese HE Criswell GE Duncan RA Mueller, Brain Res Bull 1990 25 477 484 10.1016/0361-9230(90)90240-Z 2127238
38. Dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease. HA Jinnah BE Wojcik M Hunt N Narang KY Lee M Goldstein JK Wamsley PJ Langlais T Friedmann, J Neurosci 1994 14 1164 1175 7509865
39. Influence of age and strain on striatal dopamine loss in a genetic mouse model of Lesch-Nyhan disease. HA Jinnah MD Jones BE Wojcik JD Rothstein EJ Hess T Friedmann GR Breese, J Neurochem 1999 72 225 229 10.1046/j.1471-4159.1999. 0720225.x 9886073
40. HPRT-APRT-deficient mice are not a model for Lesch-Nyhan syndrome. SJ Engle DE Womer PM Davies G Boivin A Sahota HA Simmonds PJ Stambrook JA Tischfield, Hum Mol Genet 1996 5 1607 1610 10.1093/hmg/5.10.1607 8894695
41. Characterization of the dopamine defect in primary cultures of dopaminergic neurons from hypoxanthine phosphoribosyltransferase knockout mice. DW Smith T Friedmann, Mol Ther 2000 1 486 491 10.1006/mthe.2000.0057 10933970
42. Abnormal purine and pyrimidine nucleotide content in primary astroglia cultures from hypoxanthine-guanine phosphoribosyltransferase-deficient transgenic mice. D Pelled O Sperling E Zoref-Shani, J Neurochem 1999 72 1139 1145 10.1046/j.1471-4159.1999.0721139.x 10037486
43. Purine nucleotide metabolism in cultured neurons and astroglia from HPRT-deficient knockout mice. E Zoref-Shani P Boer S Brosh D Pelled Y Bromberg O Sperling, Ital J Biochem 2001 50 9 13 12170582
44. A human neuronal tissue culture model for Lesch-Nyhan disease. TL Shirley JC Lewers K Egami A Majumdar M Kelly I Ceballos-Picot MM Seidman HA Jinnah, J Neurochem 2007 101 841 853 10.1111/j.1471-4159.2007.04472.x 17448149
45. Altered membrane NTPase activity in Lesch-Nyhan disease fibroblasts: comparison with HPRT knockout mice and HPRT-deficient cell lines. CS Pinto HA Jinnah TL Shirley WL Nyhan R Seifert, J Neurochem 2005 93 1579 1586 10.1111/j.1471-4159.2005.03151.x 15935074
46. Assessment of purine-dopamine interactions in 6-hydroxydopamine-lesioned rats: evidence for pre- and postsynaptic influences by adenosine. H Criswell RA Mueller GR Breese, J Pharmacol Exp Ther 1988 244 493 500 3126293
47. Adenosine transport in peripheral blood lymphocytes from Lesch-Nyhan patients. RJ Torres I Deantonio C Prior JG Puig, Biochem J 2004 377 733 739 14572307 10.1042/BJ20031035
48. Study of the adenosinergic system in the brain of HPRT knockout mouse (Lesch-Nyhan disease). M Bertelli S Cecchin C Lapucci G Jacomelli HA Jinnah M Pandolfo V Micheli, Clin Chim Acta 2006 373 104 107 10.1016/j.cca.2006.05.013 16793031
49. Hypoxanthine decreases equilibrative type of adenosine transport in lymphocytes from Lesch-Nyhan patients. C Prior RJ Torres JG Puig, Eur J Clin Invest 2007 37 905 911 10.1111/j.1365-2362.2007.01869.x 17883419
50. Intrastriatal hypoxanthine reduces Na(+),K(+)-ATPase activity and induces oxidative stress in the rats. CS Bavaresco F Chiarani CM Wannmacher CA Netto AT Wyse, Metab Brain Dis 2007 22 1 11 10.1007/s11011-006-9037-y 17226099
51. Decreased GTP-stimulated adenylyl cyclase activity in HPRT-deficient human and mouse fibroblast and rat B103 neuroblastoma cell membranes. CS Pinto R Seifert, J Neurochem 2006 96 454 459 10.1111/j.1471-4159.2005.03570.x 16336632
52. Factors in the pathogenesis of the brain damage and anaemia in the Lesch-Nyhan syndrome. RO McKeran, Ciba Found Symp 1977 48 83 96 245994
53. Craniocerebral magnetic resonance imaging measurement and findings in Lesch-Nyhan syndrome. JC Harris RR Lee HA Jinnah DF Wong M Yaster RN Bryan, Arch Neurol 1998 55 547 553 10.1001/archneur.55.4.547 9561984
54. Urine uric acid to creatinine ratio - a screening test for inherited disorders of purine metabolism. Phosphoribosyltransferase (PRT) deficiency in X-linked cerebral palsy and in a variant of gout. JM Kaufman ML Greene JE Seegmiller, J Pediatr 1968 73 583 592 10.1016/S0022-3476(68)80274-4 5678000
55. Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency. RJ Torres C Prior JG Puig, Metabolism 2007 56 1179 1186 10.1016/j.metabol.2007.04.013 17697859
56. Hypoxanthine-guanine phosphoribosyltransferase assay using high performance liquid chromatography. HJ Rylance RC Wallace G Nuki, Clin Chim Acta 1982 121 H159 165 10.1016/0009-8981(82)90054-7
57. The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. JG Puig RJ Torres FA Mateos T Ramos AS Buno J Arcas, Adv Exp Med Bio 2000 486 15 21
58. Automated DNA sequencing of the human HPRT locus. A Edwards H Voss P Rice A Civitello J Stegemann C Schwager J Zimmermann H Erfle CT Caskey W Ansorge, Genomics 1990 6 593 608 10.1016/0888-7543(90)90493-E 2341149
59. Isolation and characterization of a full-length expressible cDNA for human hypoxanthine phosphoribosyl transferase. DJ Jolly H Okayama P Berg AC Esty D Filpula P Bohlen GG Johnson JE Shively T Hunkapillar T Friedmann, Proc Natl Acad Sci U S A 1983 80 477 481 6300847 10.1073/pnas.80.2.477
60. A molecular survey of hypoxanthine-guanine phosphoribosyltransferase deficiency in man. JM Wilson JT Stout TD Palella BL Davidson WN Kelley CT Caskey, J Clin Invest 1986 77 188 195 3944251
61. Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in ten subjects determined by direct sequencing of amplified transcripts. BL Davidson SA Tarle TD Palella WN Kelley, J Clin Invest 1989 84 342 346 2738157
62. Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families. RA Gibbs PN Nguyen A Edwards AB Civitello CT Caskey, Genomics 1990 7 235 244 10.1016/0888-7543(90) 90545-6 2347587
63. The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. HA Jinnah L De Gregorio JC Harris WL Nyhan JP O'Neill, Mutat Res 2000 463 309 326 10.1016/S1383-5742(00) 00052-1 11018746
64. Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish families. RJ Torres FA Mateos J Molano BS Gathoff JP O'Neill RM Gundel L Trombley JG Puig, Hum Mutat 2000 15 383 10.1002/(SICI)1098-1004(200004)15:4<383::AID-HUMU17>3.0.CO;2-2 10737990
65. Official website of the Lesch-Nyhan disease Study Group. http://www.lesch-nyhan.org
66. Molecular, biochemical, and genetic characterization of a female patient with Lesch-Nyhan disease. C Rinat E Zoref-Shani Z Ben-Neriah Y Bromberg R Becker-Cohen S Feinstein O Sperling Y Frishberg, Mol Genet Metab 2006 87 249 252 10.1016/j.ymgme.2005.09.025 16343967
67. Lesch-Nyhan disease in a female with a clinically normal monozygotic twin. L De Gregorio HA Jinnah JC Harris WL Nyhan DJ Schretlen LM Trombley JP O'Neill, Mol Genet Metab 2005 85 70 77 10.1016/j.ymgme.2004.11.009 15862283
68. An unexpected affected female patient in a classical Lesch-Nyhan family. L De Gregorio WL Nyhan E Serafin NA Chamoles, Mol Genet Metab 2000 69 263 268 10.1006/mgme.2000.2967 10767182
69. Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X-inactivation causing Lesch-Nyhan syndrome in a female patient. B Aral G de Saint Basile S Al-Garawi P Kamoun I Ceballos-Picot, Hum Mutat 1996 7 52 58 10.1002/(SICI)1098-1004(1996)7:1<52:: AID-HUMU7>3.0.CO;2-R 8664901
70. The diagnosis of the carrier state for the Lesch - Nyhan syndrome. RO McKeran TM Andrews A Howell DA Gibbs S Chinn WE Watts, Q J Med 1975 44 189 205 1178810
71. Purine metabolism in female heterozygotes for hypoxanthine- guaninephosphoribosyltransferase deficiency. JG Puig FA Mateos RJ Torres AS Buno, Eur J Clin Invest 1998 28 950 957 10.1046/j.1365-2362.1998.00392.x 9824441
72. Selection against blood cells deficient in hypoxanthine phosphoribosyltransferase (HPRT) in Lesch-Nyhan heterozygotes occurs at the level of multipotent stem cells. M Hakoda Y Hirai M Akiyama H Yamanaka C Terai N Kamatani S Kashiwazaki, Hum Genet 1995 96 674 680 10.1007/BF00210298 8522326
73. Detection of Lesch-Nyhan syndrome carriers: analysis of hair roots for HPRT by agarose gel electrophoresis and autoradiography. B Bakay C Tucker-Pian JE Seegmiller, Clin Genet 1980 17 369 374 7398108
74. Mutation carrier testing in Lesch-Nyhan syndrome families: HPRT mutant frequency and mutation analysis with peripheral blood T lymphocytes. JP O'Neill, Genet Test 2004 8 51 64 10.1089/109065704323016030 15140374
75. Carrier state in HGPRT deficiency. A study in 14 Spanish families. RJ Torres A Buno FA Mateos JG Puig, Adv Exp Med Biol 1998 431 197 200 9598058
76. Prenatal diagnosis of Lesch-Nyhan disease. WL Nyhan LU Vuong R Broock, Prenat Diagn 2003 23 807 809 10.1002/pd.691 14558024
77. Prenatal diagnosis by enzyme analysis in 15 pregnancies at risk for the Lesch-Nyhan syndrome. GW Graham DA Aitken JM Connor, Prenat Diagn 1996 16 647 651 10.1002/(SICI)1097-0223(199607)16:7<647::AID-PD932>3.0.CO;2-S 8843475
78. The development of allopurinol. RW Rundles, Arch Intern Med 1985 145 1492 1503 10.1001/archinte.145.8.1492 3896181
79. Lesch-Nyhan disease: clinical experience with nineteen patients. R Christie C Bay IA Kaufman B Bakay M Borden WL Nyhan, Develop Med Child Neurol 1982 24 293 306 7095300
80. An enzymatic basis for variation in response to allopurinol. Hypoxathine-Guanine Phosphoribosyl transferase deficiency. WN Kelley FM Rosenbloom J Miller JE Seegmiller, N Eng J Med 1968 278 287 293
81. Xanthine calculi in the Lesch-Nyhan syndrome. WA Brock J Golden GW Kaplan, J Urol 1983 130 157 159 6864903
82. A review of behavioral treatments used for Lesch-Nyhan syndrome. L Olson D Houlihan, Behav Modif 2000 24 202 222 10.1177/0145445500242003 10804680
83. Gabapentin for self-injurious behavior in Lesch-Nyhan syndrome. J McManaman DA Tam, Pediatr Neurol 1999 20 381 382 10.1016/S0887-8994(98)00166-0 10371385
84. Botulinum toxin as a novel treatment for self-mutilation in Lesch-Nyhan syndrome. E Dabrowski SA Smathers CS Ralstrom MA Nigro JP Leleszi, Dev Med Child Neurol 2005 47 636 639 10.1017/S0012162205001246 16138673
85. Electrophysiological characteristics of limbic and motor globus pallidus internus (GPI) neurons in two cases of Lesch-Nyhan syndrome. E Pralong C Pollo P Coubes J Bloch E Roulet MH Tetreault D Debatisse JG Villemure, Neurophysiol Clin 2005 35 168 173 10.1016/j.neucli.2005.12.004 16530134
86. Disappearance of self-mutilating behavior in a patient with lesch-nyhan syndrome after bilateral chronic stimulation of the globus pallidus internus. Case report. T Taira T Kobayashi T Hori, J Neurosurg 2003 98 414 416 12593632
87. Sudden death in Lesch-Nyhan disease. VK Neychev HA Jinnah, Dev Med Child Neurol 2006 48 923 926 10.1017/S0012162206002015 17044962