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Abnormal hypoxanthine-guanine phosphoribosyltransferase level

MedGen UID:
1642749
•Concept ID:
C4703556
•
Finding
Synonyms: Abnormal 6-hydroxypurine phosphoribosyltransferase level; Abnormal GMP pyrophosphorylase level; Abnormal GPRT level
 
HPO: HP:0031821

Definition

Altered level of the enzyme that catalyzes conversion of hypoxanthine to inosine monophosphate and guanine to guanosine monophosphate via transfer of the 5-phosphoribosyl group from 5-phosphoribosyl 1-pyrophosphate. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal hypoxanthine-guanine phosphoribosyltransferase level

Professional guidelines

PubMed

1,3-Butadiene: Biomarkers and application to risk assessment.
Swenberg JA, Bordeerat NK, Boysen G, Carro S, Georgieva NI, Nakamura J, Troutman JM, Upton PB, Albertini RJ, Vacek PM, Walker VE, Sram RJ, Goggin M, Tretyakova N
Chem Biol Interact 2011 Jun 30;192(1-2):150-4. Epub 2010 Oct 23 doi: 10.1016/j.cbi.2010.10.010. PMID: 20974116Free PMC Article
Inherited purine enzyme deficiencies: prenatal diagnosis and heterozygote detection.
de Bruyn CH
Clin Biochem 1983 Feb;16(1):38-42. doi: 10.1016/s0009-9120(83)94364-3. PMID: 6407779

Recent clinical studies

Etiology

Do clinical features of Lesch-Nyhan disease correlate more closely with hypoxanthine or guanine recycling?
Schretlen DJ, Callon W, Ward RE, Fu R, Ho T, Gordon B, Harris JC, Jinnah HA
J Inherit Metab Dis 2016 Jan;39(1):85-91. Epub 2015 Jun 12 doi: 10.1007/s10545-015-9869-x. PMID: 26067813Free PMC Article
Regional brain volume abnormalities in Lesch-Nyhan disease and its variants: a cross-sectional study.
Schretlen DJ, Varvaris M, Ho TE, Vannorsdall TD, Gordon B, Harris JC, Jinnah HA
Lancet Neurol 2013 Dec;12(12):1151-8. doi: 10.1016/s1474-4422(13)70238-2. PMID: 24383089Free PMC Article
1,3-Butadiene: Biomarkers and application to risk assessment.
Swenberg JA, Bordeerat NK, Boysen G, Carro S, Georgieva NI, Nakamura J, Troutman JM, Upton PB, Albertini RJ, Vacek PM, Walker VE, Sram RJ, Goggin M, Tretyakova N
Chem Biol Interact 2011 Jun 30;192(1-2):150-4. Epub 2010 Oct 23 doi: 10.1016/j.cbi.2010.10.010. PMID: 20974116Free PMC Article
A human neuronal tissue culture model for Lesch-Nyhan disease.
Shirley TL, Lewers JC, Egami K, Majumdar A, Kelly M, Ceballos-Picot I, Seidman MM, Jinnah HA
J Neurochem 2007 May;101(3):841-53. doi: 10.1111/j.1471-4159.2007.04472.x. PMID: 17448149
Renal excretion of hypoxanthine and xanthine in primary gout.
Puig JG, Mateos FA, Jiménez ML, Ramos TH
Am J Med 1988 Oct;85(4):533-7. doi: 10.1016/s0002-9343(88)80091-3. PMID: 3177401

Diagnosis

Uric acid, an important screening tool to detect inborn errors of metabolism: a case series.
Jasinge E, Kularatnam GAM, Dilanthi HW, Vidanapathirana DM, Jayasena KLSPKM, Chandrasiri NDPD, Indika NLR, Ratnayake PD, Gunasekara VN, Fairbanks LD, Stiburkova B
BMC Res Notes 2017 Sep 6;10(1):454. doi: 10.1186/s13104-017-2795-2. PMID: 28877755Free PMC Article
Proteomic analysis of Down's syndrome patients with gout.
Chen YC, Wang PW, Pan TL, Wallace CG, Chen CJ
Clin Chim Acta 2006 Jul 15;369(1):89-94. Epub 2006 Feb 28 doi: 10.1016/j.cca.2006.01.018. PMID: 16500633
Chemical diagnosis of Lesch-Nyhan syndrome using gas chromatography-mass spectrometry detection.
Ohdoi C, Nyhan WL, Kuhara T
J Chromatogr B Analyt Technol Biomed Life Sci 2003 Jul 15;792(1):123-30. doi: 10.1016/s1570-0232(03)00277-0. PMID: 12829005
Renal excretion of hypoxanthine and xanthine in primary gout.
Puig JG, Mateos FA, Jiménez ML, Ramos TH
Am J Med 1988 Oct;85(4):533-7. doi: 10.1016/s0002-9343(88)80091-3. PMID: 3177401
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

Therapy

Late diagnosis of Lesch-Nyhan disease complicated with end-stage renal disease and tophi burst: a case report.
Ambarsari CG, Cahyadi D, Sari L, Satria O, Sahli F, Darmadi TL, Kadaristiana A
Ren Fail 2020 Nov;42(1):113-121. doi: 10.1080/0886022X.2020.1713805. PMID: 31985336Free PMC Article
Xanthine calculi in a patient with Lesch-Nyhan syndrome and factor V Leiden treated with allopurinol: case report.
Shields LBE, Peppas DS, Rosenberg E
BMC Pediatr 2018 Jul 12;18(1):231. doi: 10.1186/s12887-018-1197-5. PMID: 30001695Free PMC Article
Prolactin alters blood pressure by modulating the activity of endothelial nitric oxide synthase.
Chang AS, Grant R, Tomita H, Kim HS, Smithies O, Kakoki M
Proc Natl Acad Sci U S A 2016 Nov 1;113(44):12538-12543. Epub 2016 Oct 17 doi: 10.1073/pnas.1615051113. PMID: 27791173Free PMC Article
Acute renal failure unmasking Lesch-Nyhan disease in a patient with tuberous sclerosis complex.
Thumfart J, Weschke B, Ringe H, Weinhold N, Müller D
Eur J Paediatr Neurol 2016 Jul;20(4):649-51. Epub 2016 May 3 doi: 10.1016/j.ejpn.2016.04.014. PMID: 27185581
Craniocerebral magnetic resonance imaging measurement and findings in Lesch-Nyhan syndrome.
Harris JC, Lee RR, Jinnah HA, Wong DF, Yaster M, Bryan RN
Arch Neurol 1998 Apr;55(4):547-53. doi: 10.1001/archneur.55.4.547. PMID: 9561984

Prognosis

Altered erythrocyte nucleotide patterns are characteristic of inherited disorders of purine or pyrimidine metabolism.
Simmonds HA, Fairbanks LD, Morris GS, Webster DR, Harley EH
Clin Chim Acta 1988 Feb 15;171(2-3):197-210. doi: 10.1016/0009-8981(88)90145-3. PMID: 3370820

Clinical prediction guides

Guanine nucleotide depletion induces differentiation and aberrant neurite outgrowth in human dopaminergic neuroblastoma lines: a model for basal ganglia dysfunction in Lesch-Nyhan disease.
Messina E, Micheli V, Giacomello A
Neurosci Lett 2005 Feb 28;375(2):97-100. Epub 2004 Dec 10 doi: 10.1016/j.neulet.2004.10.076. PMID: 15670649
Regulation of the hypoxanthine phosphoribosyltransferase gene: in vitro and in vivo approaches.
Jiralerspong S, Patel PI
Proc Soc Exp Biol Med 1996 Jun;212(2):116-27. doi: 10.3181/00379727-212-43998. PMID: 8650248
Altered erythrocyte nucleotide patterns are characteristic of inherited disorders of purine or pyrimidine metabolism.
Simmonds HA, Fairbanks LD, Morris GS, Webster DR, Harley EH
Clin Chim Acta 1988 Feb 15;171(2-3):197-210. doi: 10.1016/0009-8981(88)90145-3. PMID: 3370820
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
Adenine phosphoribosyltransferase deficiency: a previously undescribed genetic defect in man.
Kelley WN, Levy RI, Rosenbloom FM, Henderson JF, Seegmiller JE
J Clin Invest 1968 Oct;47(10):2281-9. doi: 10.1172/JCI105913. PMID: 5676523Free PMC Article

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