STUDIES ON A CHILD SUSPECTED OF HAVING A DEFICIENCY IN 3-HYDROXY-3-METHYLGLUTARYL-COA LYASE

被引：20

作者：

TRUSCOTT, RJW

HALPERN, B

WYSOCKI, SJ

HAHNEL, R

WILCKEN, B

机构：

[1] KING EDWARD MEM HOSP WOMEN,SUBIACO,W AUSTRALIA,AUSTRALIA

[2] OLIVER LATHAM LAB,SYDNEY,NEW S WALES,AUSTRALIA

来源：

CLINICA CHIMICA ACTA | 1979年 / 95卷 / 01期

关键词：

D O I：

10.1016/0009-8981(79)90330-9

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

The urine of a child who presented with hyperammonemia was found to contain elevated levels of 3-hydroxy-3-methylglutaric acid, 3-methylglutaconic acid and 3-methylglutaric acid. An increased excretion of these organic acids has been reported previously in a child with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency. Enzyme studies using cultured fibroblasts from this patient, however, indicated that the 3-hydroxy-3-methylglutaryl-CoA lyase activity was not markedly reduced. © 1979.

引用

页码：11 / 16

页数：6

共 11 条

[1] BJORKMAN L, 1976, CLIN CHEM, V22, P49
[2] STUDIES ON URINARY ACIDIC METABOLITES EXCRETED BY PATIENTS WITH BETA-METHYLCROTONYLGLYCINURIA, PROPIONIC ACIDEMIA AND METHYLMALONIC ACIDEMIA, USING GAS-LIQUID-CHROMATOGRAPHY AND MASS-SPECTROMETRY
CHALMERS, RA
LAWSON, AM
WATTS, RWE
[J]. CLINICA CHIMICA ACTA, 1974, 52 (01) : 43 - 51
[3] ORGANIC-ACID EXCRETION IN A PATIENT WITH 3-HYDROXY-3-METHYLGLUTARYL-COA LYASE DEFICIENCY - FACTS AND ARTIFACTS
DURAN, M
KETTING, D
WADMAN, SK
JAKOBS, C
SCHUTGENS, RBH
VEDER, HA
[J]. CLINICA CHIMICA ACTA, 1978, 90 (02) : 187 - 193
[4] FAULL K, 1976, NEW ENGL J MED, V294, P1013
[5] URINARY ORGANIC-ACID PROFILE ASSOCIATED WITH 3-HYDROXY-3-METHYLGLUTARIC ACIDURIA
FAULL, KF
BOLTON, PD
HALPERN, B
HAMMOND, J
DANKS, DM
[J]. CLINICA CHIMICA ACTA, 1976, 73 (03) : 553 - 559
[6] MARKEY SP, 1974, APPLICATION GAS CHRO, P39
[7] SCRIVER CR, 1974, APPLICATION GAS CHRO, P3
[8] IDENTIFICATION OF BETA-HYDROXYISOVALERIC ACID IN URINE OF A PATIENT WITH ISOVALERIC ACIDEMIA
TANAKA, K
ORR, JC
ISSELBACHER, KJ
[J]. BIOCHIMICA ET BIOPHYSICA ACTA, 1968, 152 (03) : 638 - +
[9] QUANTITATIVE METABOLIC PROFILING OF URINARY ORGANIC-ACIDS BY GAS CHROMATOGRAPHY MASS SPECTROMETRY - COMPARISON OF ISOLATION METHODS
THOMPSON, JA
MARKEY, SP
[J]. ANALYTICAL CHEMISTRY, 1975, 47 (08) : 1313 - 1321
[10] 3-HYDROXY-3-METHYLGLUTARIC ACIDURIA, COMBINED WITH 3-METHYLGLUTACONIC ACIDURIA
WYSOCKI, SJ
WILKINSON, SP
HAHNEL, R
WONG, CYB
PANEGYRES, PK
[J]. CLINICA CHIMICA ACTA, 1976, 70 (03) : 399 - 406

← 1 2 →