Kelley-Seegmiller syndrome due to a unique variant of hypoxanthine-guanine phosphoribosyltransferase: Reduced affinity for 5-phosphoribosyl-1-pyrophosphate manifested only at low, physiological substrate concentrations

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1500, Issue 2, 2000, Pages 197-203

  Zoref Shani, Esther ^a   Feinstein, Sofia ^b   Frishberg, Yaacov ^b   Bromberg, Yael ^a   Sperling, Oded ^a,c  

^a TEL AVIV UNIVERSITY   (Israel)

^b SHAARE ZEDEK MEDICAL CENTER   (Israel)

^c RABIN MEDICAL CENTER   (Israel)

Author keywords

Hypoxanthine guanine phosphoribosyltransferase deficiency; Kelley Seegmiller syndrome; Lesch Nyhan syndrome

Indexed keywords

ADENINE; ALLOPURINOL; HYPOXANTHINE; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; PHOSPHORIBOSYL PYROPHOSPHATE;

ACUTE KIDNEY FAILURE; ARTICLE; CASE REPORT; CULTURE MEDIUM; DRUG UPTAKE; ENZYME ACTIVITY; ENZYME DEFICIENCY; ERYTHROCYTE; FEVER; FIBROBLAST; FIBROBLAST CULTURE; GENE MUTATION; HEMOLYSATE; HUMAN; HYPERURICEMIA; HYPERURICOSURIA; IN VITRO STUDY; KELLEY SEEGMILLER SYNDROME; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; STREPTOCOCCUS INFECTION;

ADENINE; CELLS, CULTURED; CHILD, PRESCHOOL; CULTURE MEDIA, CONDITIONED; DNA MUTATIONAL ANALYSIS; FIBROBLASTS; GOUT; HUMANS; HYPOXANTHINE; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; JEWS; KIDNEY FAILURE, ACUTE; LYMPHOCYTES; MALE; NUCLEIC ACIDS; NUCLEOTIDES; PHOSPHORIBOSYL PYROPHOSPHATE; PURINES; SYNDROME; URIC ACID;

EID: 0033964453     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0925-4439(99)00103-9     Document Type: Article

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