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Hypoxanthine-guanine phosphoribosyltransferase deficiency

MedGen UID:
1852368
•Concept ID:
C5848153
•
Disease or Syndrome
Synonyms: HPRT DEFICIENCY; HPRT1 DEFICIENCY; Hypoxanthine guanine phospho-ribosyltransferase 1 deficiency
SNOMED CT: Deficiency of hypoxanthine-guanine phosphoribosyltransferase (124275001); Deficiency of guanine phosphoribosyltransferase (124275001); Deficiency of IMP pyrophosphorylase (124275001); Deficiency of hypoxanthine phosphoribosyltransferase (124275001)
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
Prenatal diagnosis of Lesch-Nyhan disease.
Nyhan WL, Vuong LU, Broock R
Prenat Diagn 2003 Oct;23(10):807-9. doi: 10.1002/pd.691. PMID: 14558024
Diagnosis and treatment of the Lesch-Nyhan syndrome.
Crawhall JC, Henderson JF, Kelley WN
Pediatr Res 1972 May;6(5):504-13. doi: 10.1203/00006450-197205000-00004. PMID: 4558815

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
An atypical case of hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome). II. Genetic studies.
de Bruyn CH, Oei TL, Geerdink RA, Lommen EJ
Clin Genet 1973;4(4):353-9. doi: 10.1111/j.1399-0004.1973.tb01931.x. PMID: 4747812
Hypoxanthine-guanine phosphoribosyltransferase deficiency and Xg blood group.
Greene ML, Nyhan WL, Seegmiller JE
Am J Hum Genet 1970 Jan;22(1):50-4. PMID: 5411648Free 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
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
Problems of diagnosis in an adolescent with hypoxanthine-guanine phosphoribosyltransferase deficiency and acute renal failure.
Cameron JS, Simmonds HA, Webster DR, Wass V, Sahota A
Adv Exp Med Biol 1984;165 Pt A:7-12. doi: 10.1007/978-1-4684-4553-4_2. PMID: 6720419
An atypical case of hypoxanthine-guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome). I. Clinical studies.
Geerdink RA, de Vries WH, Willemse J, Oei TL, de Bruyn CH
Clin Genet 1973;4(4):348-52. doi: 10.1111/j.1399-0004.1973.tb01930.x. PMID: 4747811

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
The IMP dehydrogenase catalysed reaction in erythrocytes of normal individuals and patients with hypoxanthine guanine phosphoribosyltransferase deficiency.
Lommen EJ, de Abreu RA, Trijbels JM, Schretlen ED
Acta Paediatr Scand 1974 Jan;63(1):140-2. doi: 10.1111/j.1651-2227.1974.tb04362.x. PMID: 4830404
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
X-linked primary hyperuricaemia (hypoxanthine-guanine phosphoribosyltransferase deficiency encephalopathy.
Dreifuss FE, Newcombe DS, Shapiro SL, Sheppard GL
J Ment Defic Res 1968 Jun;12(2):100-7. doi: 10.1111/j.1365-2788.1968.tb00248.x. PMID: 5663935

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

Hydrophilic-interaction liquid chromatography-tandem mass spectrometric determination of erythrocyte 5-phosphoribosyl 1-pyrophosphate in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency.
Hasegawa H, Shinohara Y, Nozaki S, Nakamura M, Oh K, Namiki O, Suzuki K, Nakahara A, Miyazawa M, Ishikawa K, Himeno T, Yoshida S, Ueda T, Yamada Y, Ichida K
J Chromatogr B Analyt Technol Biomed Life Sci 2015 Jan 22;976-977:55-60. Epub 2014 Nov 24 doi: 10.1016/j.jchromb.2014.11.010. PMID: 25482009
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
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
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
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

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