Variable expression of HPRT deficiency in 5 members of a family with the same mutation

Archives of Neurology

Volumn 65, Issue 9, 2008, Pages 1240-1243

  Hladnik, Uros ^a   Nyhan, William L ^b   Bertelli, Matteo ^a  

^a Baschirotto Institute for Rare Diseases   (Italy)

^b UNIVERSITY OF CALIFORNIA SAN DIEGO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLOPURINOL; CREATININE; ETIRACETAM; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; LORAZEPAM; URIC ACID;

ADULT; ARTICLE; CASE REPORT; DYSTONIA; EXON; GENE DELETION; GENE MUTATION; GOUT; HUMAN; IMPULSIVENESS; KIDNEY FAILURE; LESCH NYHAN SYNDROME; MALE; MOTOR DYSFUNCTION; NEPHROLITHIASIS; PHENOTYPE; PHYSICAL EXAMINATION; PHYSIOTHERAPIST; PHYSIOTHERAPY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEIZURE; SPASTICITY; SPEECH DISORDER; ULTRASOUND; UREMIA; URINARY URGENCY; VOMITING; WALKING DIFFICULTY;

ADULT; FEMALE; GENE EXPRESSION REGULATION, ENZYMOLOGIC; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; MALE; MUTATION; PEDIGREE;

EID: 51649107896     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneur.65.9.1240     Document Type: Article

References (12)

1. Lesch M, Nyhan WL. A familial disorder of uric acid metabolism and central nervous system function. Am J Med. 1964;36:561-570.
2. Nyhan WL, Barshop BA, Ozand P. Atlas of Metabolic Diseases. London, England: Hodder Arnold; 2005.
3. Jinnah HA, De Gregorio L, Harris JC, et al. The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutat Res. 2000;463(3):309-326.
4. Page T, Bakay B, Nissinen E, et al. Hypoxanthine-guanine phosphoribosyltransferase variants: correlation of clinical phenotype with enzyme activity. J Inherit Metab Dis. 1981;4(4):203-206.
5. Kogut MD, Donnell GN, Nyhan WL, Sweetman L. Disorder of purine metabolism due to partial deficiency of hypoxanthine-guanine phosphoribosyltransferase: a study of a family. Am J Med. 1970;48(2):148-161.
6. Bakay B, Nissinen E, Sweetman L, et al. Utilization of purines by an HPRT variant in an intelligent, nonmutilative patient with features of the Lesch-Nyhan syndrome. Pediatr Res. 1979;13(12):1365-1370.
7. Page T, Nyhan WL, Morena de Vega V. Syndrome of mild mental retardation, spastic gait, and skeletal malformations in a family with partial deficiency of hypoxanthineguanine phosphoribosyltransferase. Pediatrics. 1987;79(5):713-717.
8. Page TM, Broock RL, Nyhan WL, Nieto LH. Use of selective media for distinguishing variant forms of hypoxanthine phosphoribosyltransferase. Clin Chim Acta. 1986;154(3):195-201.
9. Bertelli M, Randi D, Micheli V, et al. Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in Italian Lesch-Nyhan patients: identification of nine novel mutations. J Inherit Metab Dis. 2004;27(6):767-773.
10. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16(3):1215.
11. Nyhan WL, Pesek J, Sweetman L, Carpenter DG, Carter CH. Genetics of an X-linked disorder of uric acid metabolism and cerebral function. Pediatr Res. 1967;1:5-13.
12. Puig JG, Torres RJ, Mateos FA, et al. The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: clinical experience based on 22 patients from 18 Spanish families. Medicine (Baltimore). 2001;80(2):102-12.