A NEW DISORDER OF PURINE METABOLISM WITH BEHAVIORAL MANIFESTATIONS

被引：71

作者：

NYHAN, WL

JAMES, JA

TEBERG, AJ

SWEETMAN, L

NELSON, LG

机构：

[1] Department of Pediatrics, University of Miami School of Medicine, Miami, FL

[2] Department of Biochemistry, University of Miami School ofMedicine, Miami, FL

[3] Department of Pediatrics, University of Southern California School of Medicine, Los Angeles, CA

[4] Los AngelesCounty-University, Southern California Medical Center, Los Angeles, CA

来源：

JOURNAL OF PEDIATRICS | 1969年 / 74卷 / 01期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1016/S0022-3476(69)80004-1

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Hyperuricemia has been observed in a 3-year-old boy with mental retardation, dysplastic teeth, failure to cry with tears, absence of speech, and unusual, autistic behavior. Increased synthesis of purines de novo was documented by a rate of conversion of glycine to uric acid that was seven times that of control. The activity of the enzyme hypoxanthine guanine phosphoribosyl transferase was normal, while that of adenine phosphoribosyl transferase was increased. These observations are interpreted to reflect a distinct disease productive of hyperuricemia very early in life. © 1969 The C. V. Mosby Company.

引用

页码：20 / &

共 12 条

[1]

CHEEK DB, 1968, HUMAN GROWTH BODY ED, P417

[2]

COLOWICK SP, 1963, METHODS ENZYMOLOG ED, V6, P144

[3]

FLAKS JG, 1963, METHOD ENZYMOL, V6, P144

[4] AN ENZYMATIC BASIS FOR VARIATION IN RESPONSE TO ALLOPURINOL - HYPOXANTHINE-GUANINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY [J].