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Lesch-Nyhan phenotype with normal HGPRT

MedGen UID:
374332
•Concept ID:
C1839883
•
Finding
Synonym: LESCH-NYHAN PHENOTYPE WITH NORMAL HGPRT
 
Monarch Initiative: MONDO:0010642
OMIM®: 308950

Clinical features

From HPO
Spasticity
MedGen UID:
7753
•Concept ID:
C0026838
•
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
See: Feature record | Search on this feature
Self-mutilation
MedGen UID:
19925
•Concept ID:
C0036601
•
Injury or Poisoning
Deliberate harm to one's body resulting in tissue damage, without a conscious intent to die.
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Choreoathetosis
MedGen UID:
39313
•Concept ID:
C0085583
•
Disease or Syndrome
Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).
See: Feature record | Search on this feature
Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
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Hyperuricemia
MedGen UID:
149260
•Concept ID:
C0740394
•
Disease or Syndrome
An abnormally high level of uric acid in the blood.
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Recent clinical studies

Etiology

Skewed X inactivation in Lesch-Nyhan disease carrier females.
Torres RJ, Puig JG
J Hum Genet 2017 Dec;62(12):1079-1083. Epub 2017 Sep 14 doi: 10.1038/jhg.2017.88. PMID: 28904386
Eighteen-year follow-up of a patient with partial hypoxanthine phosphoribosyltransferase deficiency and a new mutation.
Gregoric A, Rabelink GM, Kokalj Vokac N, Varda NM, Zagradisnik B
Pediatr Nephrol 2005 Sep;20(9):1346-8. Epub 2005 Jun 18 doi: 10.1007/s00467-005-1935-4. PMID: 15965771
The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families.
Puig JG, Torres RJ, Mateos FA, Ramos TH, Arcas JM, Buño AS, O'Neill P
Medicine (Baltimore) 2001 Mar;80(2):102-12. doi: 10.1097/00005792-200103000-00003. PMID: 11307586
Partial phenotypic correction of human Lesch-Nyhan (hypoxanthine-guanine phosphoribosyltransferase-deficient) lymphoblasts with a transmissible retroviral vector.
Willis RC, Jolly DJ, Miller AD, Plent MM, Esty AC, Anderson PJ, Chang HC, Jones OW, Seegmiller JE, Friedmann T
J Biol Chem 1984 Jun 25;259(12):7842-9. PMID: 6203897
Drug-resistant lymphocytes in man as indicators of somatic cell mutation.
Albertini RJ
Teratog Carcinog Mutagen 1980;1(1):25-48. doi: 10.1002/tcm.1770010105. PMID: 6119798

Diagnosis

Skewed X inactivation in Lesch-Nyhan disease carrier females.
Torres RJ, Puig JG
J Hum Genet 2017 Dec;62(12):1079-1083. Epub 2017 Sep 14 doi: 10.1038/jhg.2017.88. PMID: 28904386
HPRTYale proposed as a pathogenic variant for Lesch-Nyhan syndrome: a case report.
Stur E, Reis RS, Agostini LP, Silva-Conforti AM, Louro ID
Genet Mol Res 2016 Jun 24;15(2) doi: 10.4238/gmr.15028251. PMID: 27420966
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
Lesch-Nyhan disease: clinical experience with nineteen patients.
Christie R, Bay C, Kaufman IA, Bakay B, Borden M, Nyhan WL
Dev Med Child Neurol 1982 Jun;24(3):293-306. doi: 10.1111/j.1469-8749.1982.tb13621.x. PMID: 7095300
Drug-resistant lymphocytes in man as indicators of somatic cell mutation.
Albertini RJ
Teratog Carcinog Mutagen 1980;1(1):25-48. doi: 10.1002/tcm.1770010105. PMID: 6119798

Therapy

Rescuing compounds for Lesch-Nyhan disease identified using stem cell-based phenotypic screening.
Ruillier V, Tournois J, Boissart C, Lasbareilles M, Mahé G, Chatrousse L, Cailleret M, Peschanski M, Benchoua A
JCI Insight 2020 Feb 27;5(4) doi: 10.1172/jci.insight.132094. PMID: 31990683Free PMC Article
Molecular, biochemical, and genetic characterization of a female patient with Lesch-Nyhan disease.
Rinat C, Zoref-Shani E, Ben-Neriah Z, Bromberg Y, Becker-Cohen R, Feinstein S, Sperling O, Frishberg Y
Mol Genet Metab 2006 Mar;87(3):249-52. Epub 2005 Dec 15 doi: 10.1016/j.ymgme.2005.09.025. PMID: 16343967
Eighteen-year follow-up of a patient with partial hypoxanthine phosphoribosyltransferase deficiency and a new mutation.
Gregoric A, Rabelink GM, Kokalj Vokac N, Varda NM, Zagradisnik B
Pediatr Nephrol 2005 Sep;20(9):1346-8. Epub 2005 Jun 18 doi: 10.1007/s00467-005-1935-4. PMID: 15965771
Lesch-Nyhan disease in a female with a clinically normal monozygotic twin.
De Gregorio L, Jinnah HA, Harris JC, Nyhan WL, Schretlen DJ, Trombley LM, O'Neill JP
Mol Genet Metab 2005 May;85(1):70-7. Epub 2005 Feb 17 doi: 10.1016/j.ymgme.2004.11.009. PMID: 15862283

Prognosis

Rescuing compounds for Lesch-Nyhan disease identified using stem cell-based phenotypic screening.
Ruillier V, Tournois J, Boissart C, Lasbareilles M, Mahé G, Chatrousse L, Cailleret M, Peschanski M, Benchoua A
JCI Insight 2020 Feb 27;5(4) doi: 10.1172/jci.insight.132094. PMID: 31990683Free PMC Article
Eighteen-year follow-up of a patient with partial hypoxanthine phosphoribosyltransferase deficiency and a new mutation.
Gregoric A, Rabelink GM, Kokalj Vokac N, Varda NM, Zagradisnik B
Pediatr Nephrol 2005 Sep;20(9):1346-8. Epub 2005 Jun 18 doi: 10.1007/s00467-005-1935-4. PMID: 15965771
The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families.
Puig JG, Torres RJ, Mateos FA, Ramos TH, Arcas JM, Buño AS, O'Neill P
Medicine (Baltimore) 2001 Mar;80(2):102-12. doi: 10.1097/00005792-200103000-00003. PMID: 11307586
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: identification of point mutations in Japanese patients with Lesch-Nyhan syndrome and hereditary gout and their permanent expression in an HPRT-deficient mouse cell line.
Tohyama J, Nanba E, Ohno K
Hum Genet 1994 Feb;93(2):175-81. doi: 10.1007/BF00210606. PMID: 8112742
Expression of two X-linked genes in human hair follicles of double heterozygotes.
Goldstein JL, Marks JF, Gartler SM
Proc Natl Acad Sci U S A 1971 Jul;68(7):1425-7. doi: 10.1073/pnas.68.7.1425. PMID: 5283930Free PMC Article

Clinical prediction guides

Rescuing compounds for Lesch-Nyhan disease identified using stem cell-based phenotypic screening.
Ruillier V, Tournois J, Boissart C, Lasbareilles M, Mahé G, Chatrousse L, Cailleret M, Peschanski M, Benchoua A
JCI Insight 2020 Feb 27;5(4) doi: 10.1172/jci.insight.132094. PMID: 31990683Free PMC Article
HPRTYale proposed as a pathogenic variant for Lesch-Nyhan syndrome: a case report.
Stur E, Reis RS, Agostini LP, Silva-Conforti AM, Louro ID
Genet Mol Res 2016 Jun 24;15(2) doi: 10.4238/gmr.15028251. PMID: 27420966
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
The recognition of Lesch-Nyhan syndrome as an inborn error of purine metabolism.
Nyhan WL
J Inherit Metab Dis 1997 Jun;20(2):171-8. doi: 10.1023/a:1005348504512. PMID: 9211189
Expression of two X-linked genes in human hair follicles of double heterozygotes.
Goldstein JL, Marks JF, Gartler SM
Proc Natl Acad Sci U S A 1971 Jul;68(7):1425-7. doi: 10.1073/pnas.68.7.1425. PMID: 5283930Free PMC Article

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