A NEW DIAGNOSTIC-TECHNIQUE FOR ADENYLOSUCCINATE LYASE DEFICIENCY

被引：4

作者：

DOMKIN, VD

LAZEBNIK, TA

ROUDNEFF, AY

SMIRNOV, MN

机构：

[1] ST PETERSBURG STATE UNIV,INST BIOL,BIOCHEM GENET LAB,ST PETERSBURG,RUSSIA

[2] ST PETERSBURG POSTGRAD MED INST,DEPT PEDIAT NEUROL,ST PETERSBURG,RUSSIA

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1995年 / 18卷 / 03期

关键词：

D O I：

10.1007/BF00710417

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A convenient and simple method of diagnosing adenylosuccinate lyase (ASL) deficiency is described. This method consists of (1) isolation of SAICA riboside and S-Ado with a cation exchange resin; (2) measurement of the UV absorbance of the ammonia eluate at 270 and 250 nm; (3) calculation of the A(270)/A(250) ratio. If the value of this ratio is less than 0.45, the patient has a normal level of ASL activity. If the value of this ratio is greater than 0.70, the patient has ASL deficiency.

引用

页码：291 / 294

页数：4

共 10 条

[1]

CARTER CE, 1956, J BIOL CHEM, V222, P17

[2] DIAGNOSIS OF INHERITED ADENYLOSUCCINASE DEFICIENCY BY THIN-LAYER CHROMATOGRAPHY OF URINARY IMIDAZOLES AND BY AUTOMATED CATION-EXCHANGE COLUMN CHROMATOGRAPHY OF PURINES [J].

DEBREE, PK ;

WADMAN, SK ;

DURAN, M ;

DEJONGE, HF .

CLINICA CHIMICA ACTA, 1986, 156 (03) :279-287

[3]

JAEKEN J, 1989, LANCET, V1, P500

[4]

JAEKEN J, 1984, LANCET, V2, P1058

[5]

JAEKEN J, 1988, EUR J PEDIATR, V48, P126

[6] DETECTION OF 5'-PHOSPHORIBOSYL-4-(N-SUCCINYLCARBOXAMIDE)-5-AMINOIMIDAZOLE IN URINE BY USE OF THE BRATTON-MARSHALL REACTION - IDENTIFICATION OF PATIENTS DEFICIENT IN ADENYLOSUCCINATE LYASE ACTIVITY [J].

LAIKIND, PK ;

SEEGMILLER, JE ;

GRUBER, HE .

ANALYTICAL BIOCHEMISTRY, 1986, 156 (01) :81-90

[7]

LUKENS LN, 1959, J BIOL CHEM, V234, P1791

[8]

MADDOCKS J, 1989, LANCET, V1, P158

[9]

ROESEL RA, 1986, AM J HUM GENET, V39

[10]

Wadman S K, 1986, Adv Exp Med Biol, V195 Pt A, P21

← 1 →