Lesch-nyhan syndrome in an indian family with novel mutation in the HPRT1 gene

Indian Journal of Pediatrics

Volumn 79, Issue 11, 2012, Pages 1520-1522

  Sharma, Suvasini ^a   Jiménez, Rosa Torres ^b   Aneja, Satinder ^a   Garcia, Marta G ^b   Sethi, Gulshan R ^c  

^a KALAWATI SARAN CHILDREN'S HOSPITAL   (India)

^b HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^c LOK NAYAK HOSPITAL   (India)

Author keywords

Hyperuricemia; Purine metabolism; Self mutilation

Indexed keywords

ALLOPURINOL; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; URIC ACID;

ARTICLE; AUTOMUTILATION; CASE REPORT; CEREBRAL PALSY; CHILD; ENZYME ASSAY; FAMILY HISTORY; FINGER AUTOMUTILATION; GENE; GENE MUTATION; GENETIC SCREENING; HPRT1 GENE; HUMAN; HYPERURICEMIA; INDIAN; INFANT; LESCH NYHAN SYNDROME; LIMB MOVEMENT; LIP AUTOMUTILATION; MALE; MOLECULAR GENETICS; MOTOR DYSFUNCTION; PHENOTYPE; PRESCHOOL CHILD; RIGIDITY; URIC ACID BLOOD LEVEL;

ADOLESCENT; BASE SEQUENCE; FRAMESHIFT MUTATION; GENETIC MARKERS; GENETIC TESTING; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; INDIA; INFANT; LESCH-NYHAN SYNDROME; MALE; SEQUENCE DELETION;

EID: 84871267832     PISSN: 00195456     EISSN: 09737693     Source Type: Journal    
DOI: 10.1007/s12098-011-0657-9     Document Type: Article

References (8)

1. Torres RJ, Puig JG. Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. Orphanet J Rare Dis. 2007;8:48
2. Lesch M, Nyhan WL. A familial disorder of uric acid metabolism and central nervous system function. Am J Med. 1964;36:561-70
3. García Puig J, Torres Jiménez R, Mateos F, et al. The spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase (HPRT) deficiency Clinical experience based on 22 patients from 18 Spanish families. Medicine (Balt). 2001;80:102-12
4. Torres RJ, Mateos FA, Molano J, et al. Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish families. Hum Mutat. 2000;15:383
5. Maramattom BV. Self-mutilation in the Lesch-Nyhan syndrome Neurology. 2005;65:E25
6. Yamada Y, Yamada K, Sonta S, Wakamatsu N, Ogasawara N Mutations in the hypoxanthine guanine phosphoribosyltransferase gene (HPRT1) in Asian HPRT deficient families. Nucleosides Nucleotides Nucleic Acids. 2004;8:1169-72
7. Torres RJ, Puig JG. The diagnosis of HPRT deficiency in the 21st century. Nucleosides Nucleotides Nucleic Acids. 2008;27:564-9
8. Jinnah HA, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP. The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutat Res 2000;463:309-26