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Hypoxanthine-guanine phosphoribosyltransferase deficiency

MedGen UID:
988564
•Concept ID:
CN305342
•
Disease or Syndrome
Synonym: Hypoxanthine guanine phospho-ribosyltransferase 1 deficiency
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
X-linked recessive inheritance (Orphanet)
 
Related gene: HPRT1
 
Monarch Initiative: MONDO:0016088
Orphanet: ORPHA206428

Definition

The features of Lesch-Nyhan syndrome (LNS) are intellectual disability, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips. Megaloblastic anemia has been found in some patients (summary by van der Zee et al., 1968, Madeo et al., 2019). [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Management of Self-injurious Behaviors in Children with Neurodevelopmental Disorders: A Pharmacotherapy Overview.
Sabus A, Feinstein J, Romani P, Goldson E, Blackmer A
Pharmacotherapy 2019 Jun;39(6):645-664. Epub 2019 Mar 27 doi: 10.1002/phar.2238. PMID: 30793794Free PMC Article
Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.
Fu R, Ceballos-Picot I, Torres RJ, Larovere LE, Yamada Y, Nguyen KV, Hegde M, Visser JE, Schretlen DJ, Nyhan WL, Puig JG, O'Neill PJ, Jinnah HA; Lesch-Nyhan Disease International Study Group
Brain 2014 May;137(Pt 5):1282-303. Epub 2013 Aug 22 doi: 10.1093/brain/awt202. PMID: 23975452Free PMC Article
Medical diagnosis, management and treatment of Lesch Nyhan disease.
McCarthy G
Nucleosides Nucleotides Nucleic Acids 2004 Oct;23(8-9):1147-52. doi: 10.1081/NCN-200027395. PMID: 15571219

Recent clinical studies

Etiology

Thirteen years experience with selective screening for disorders in purine and pyrimidine metabolism.
Castro M, Carrillo R, García F, Sanz P, Ferrer I, Ruiz-Sala P, Vega AI, Ruíz Desviat L, Pérez B, Pérez-Cerdá C, Merinero B, Ugarte M
Nucleosides Nucleotides Nucleic Acids 2014;33(4-6):233-40. doi: 10.1080/15257770.2013.854381. PMID: 24940674
Attenuated variants of Lesch-Nyhan disease.
Jinnah HA, Ceballos-Picot I, Torres RJ, Visser JE, Schretlen DJ, Verdu A, Laróvere LE, Chen CJ, Cossu A, Wu CH, Sampat R, Chang SJ, de Kremer RD, Nyhan W, Harris JC, Reich SG, Puig JG; Lesch-Nyhan Disease International Study Group
Brain 2010 Mar;133(Pt 3):671-89. Epub 2010 Feb 22 doi: 10.1093/brain/awq013. PMID: 20176575Free PMC Article
Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency.
Torres RJ, Prior C, Puig JG
Metabolism 2007 Sep;56(9):1179-86. doi: 10.1016/j.metabol.2007.04.013. PMID: 17697859
Neurocognitive functioning in Lesch-Nyhan disease and partial hypoxanthine-guanine phosphoribosyltransferase deficiency.
Schretlen DJ, Harris JC, Park KS, Jinnah HA, del Pozo NO
J Int Neuropsychol Soc 2001 Nov;7(7):805-12. doi: 10.1017/s135561770177703x. PMID: 11771623
Patterns of phosphoribosylpyrophosphate and ribose-5-phosphate concentration and generation in fibroblasts from patients with gout and purine overproduction.
Becker MA
J Clin Invest 1976 Feb;57(2):308-18. doi: 10.1172/JCI108282. PMID: 176178Free PMC Article

Diagnosis

Research progress on renal calculus associate with inborn error of metabolism.
Song Y, Zhao C, Li D
Zhejiang Da Xue Xue Bao Yi Xue Ban 2023 Apr 25;52(2):169-177. doi: 10.3724/zdxbyxb-2022-0698. PMID: 37283101Free PMC Article
Unapparent hypoxanthine-guanine phosphoribosyltransferase deficiency.
Torres RJ, Puente S, Menendez A, Fernandez-Garcia N
Clin Chim Acta 2017 Sep;472:136-138. Epub 2017 Aug 3 doi: 10.1016/j.cca.2017.08.002. PMID: 28782500
Thirteen years experience with selective screening for disorders in purine and pyrimidine metabolism.
Castro M, Carrillo R, García F, Sanz P, Ferrer I, Ruiz-Sala P, Vega AI, Ruíz Desviat L, Pérez B, Pérez-Cerdá C, Merinero B, Ugarte M
Nucleosides Nucleotides Nucleic Acids 2014;33(4-6):233-40. doi: 10.1080/15257770.2013.854381. PMID: 24940674
Attenuated variants of Lesch-Nyhan disease.
Jinnah HA, Ceballos-Picot I, Torres RJ, Visser JE, Schretlen DJ, Verdu A, Laróvere LE, Chen CJ, Cossu A, Wu CH, Sampat R, Chang SJ, de Kremer RD, Nyhan W, Harris JC, Reich SG, Puig JG; Lesch-Nyhan Disease International Study Group
Brain 2010 Mar;133(Pt 3):671-89. Epub 2010 Feb 22 doi: 10.1093/brain/awq013. PMID: 20176575Free PMC Article
Neurocognitive functioning in Lesch-Nyhan disease and partial hypoxanthine-guanine phosphoribosyltransferase deficiency.
Schretlen DJ, Harris JC, Park KS, Jinnah HA, del Pozo NO
J Int Neuropsychol Soc 2001 Nov;7(7):805-12. doi: 10.1017/s135561770177703x. PMID: 11771623

Therapy

Partial hypoxanthine-guanine phosphoribosyltransferase deficiency due to a newly recognized mutation presenting with renal failure in a one-year-old boy.
Ishida Y, Ishimaru A, Tauchi H, Yamaguchi A, Yokoyama M, Hiroi K, Wakamatsu N, Yamada Y
Eur J Pediatr 2008 Aug;167(8):957-9. Epub 2007 Sep 21 doi: 10.1007/s00431-007-0607-8. PMID: 17891542
Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency.
Torres RJ, Prior C, Puig JG
Metabolism 2007 Sep;56(9):1179-86. doi: 10.1016/j.metabol.2007.04.013. PMID: 17697859
Kelley-Seegmiller syndrome in a patient with complete hypoxanthine-guanine phosphoribosyltransferase deficiency.
Cossu A, Micheli V, Jacomelli G, Carcassi A
Clin Exp Rheumatol 2002 Nov-Dec;20(6):851-3. PMID: 12508781
Urate kinetics in hypoxanthine-guanine phosphoribosyltransferase deficiency: their significance for the understanding of gout.
Emmerson BT, Gordon RB, Johnson LA
Q J Med 1976 Jan;45(177):49-61. PMID: 769040
Mechanism of excessive purine biosynthesis in hypoxanthine-guanine phosphoribosyltransferase deficiency.
Sorensen LB
J Clin Invest 1970 May;49(5):968-78. doi: 10.1172/JCI106316. PMID: 5441549Free PMC Article

Prognosis

Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency.
Torres RJ, Prior C, Puig JG
Metabolism 2007 Sep;56(9):1179-86. doi: 10.1016/j.metabol.2007.04.013. PMID: 17697859
Hypoxanthine-guanine phosphoribosyltransferase deficiency: analysis of HPRT mutations by direct sequencing and allele-specific amplification.
Sculley DG, Dawson PA, Beacham IR, Emmerson BT, Gordon RB
Hum Genet 1991 Oct;87(6):688-92. doi: 10.1007/BF00201727. PMID: 1937471
Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville).
Davidson BL, Pashmforoush M, Kelley WN, Palella TD
J Biol Chem 1989 Jan 5;264(1):520-5. PMID: 2909537
Genetic basis of hypoxanthine guanine phosphoribosyltransferase deficiency in a patient with the Lesch-Nyhan syndrome (HPRTFlint).
Davidson BL, Pashmforoush M, Kelley WN, Palella TD
Gene 1988 Mar 31;63(2):331-6. doi: 10.1016/0378-1119(88)90536-7. PMID: 3384338
Hypoxanthine-guanine phosphoribosyltransferase deficiency: chemical agents selective for mutant or normal cultured fibroblasts in mixed and heterozygote cultures.
Fujimoto WY, Subak-Sharpe JH, Seegmiller JE
Proc Natl Acad Sci U S A 1971 Jul;68(7):1516-9. doi: 10.1073/pnas.68.7.1516. PMID: 5283941Free PMC Article

Clinical prediction guides

Neurocognitive functioning in Lesch-Nyhan disease and partial hypoxanthine-guanine phosphoribosyltransferase deficiency.
Schretlen DJ, Harris JC, Park KS, Jinnah HA, del Pozo NO
J Int Neuropsychol Soc 2001 Nov;7(7):805-12. doi: 10.1017/s135561770177703x. PMID: 11771623
Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville).
Davidson BL, Pashmforoush M, Kelley WN, Palella TD
J Biol Chem 1989 Jan 5;264(1):520-5. PMID: 2909537
Overproduction of uric acid in hypoxanthine-guanine phosphoribosyltransferase deficiency. Contribution by impaired purine salvage.
Edwards NL, Recker D, Fox IH
J Clin Invest 1979 May;63(5):922-30. doi: 10.1172/JCI109392. PMID: 447834Free PMC Article
Clinical and biochemical observations on three cases of hypoxanthine-guanine phosphoribosyltransferase deficiency.
Bunn DN, Moss IK, Nicholls A, Scott JT, Snaith ML, Watson MR
Ann Rheum Dis 1975 Jun;34(3):249-55. doi: 10.1136/ard.34.3.249. PMID: 1155984Free PMC Article
Mechanism of excessive purine biosynthesis in hypoxanthine-guanine phosphoribosyltransferase deficiency.
Sorensen LB
J Clin Invest 1970 May;49(5):968-78. doi: 10.1172/JCI106316. PMID: 5441549Free PMC Article

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