ANALYSIS OF ABNORMAL URINARY METABOLITES IN THE NEWBORN PERIOD IN MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY

被引：24
作者：
BENNETT, MJ
COATES, PM
HALE, DE
MILLINGTON, DS
POLLITT, RJ
RINALDO, P
ROE, CR
TANAKA, K
机构：
[1] YALE UNIV,SCH MED,DEPT HUMAN GENET,NEW HAVEN,CT 06510
[2] CHILDRENS HOSP PHILADELPHIA,DIV GENET,PHILADELPHIA,PA
[3] CHILDRENS HOSP PHILADELPHIA,DIV ENDOCRINOL,PHILADELPHIA,PA
[4] DUKE UNIV,MED CTR,DIV PEDIAT GENET & METAB,DURHAM,NC 27710
[5] CHILDRENS HOSP,DEPT CHEM PATHOL,SHEFFIELD,ENGLAND
[6] CHILDRENS HOSP,DEPT PAEDIAT,SHEFFIELD,ENGLAND
来源：
JOURNAL OF INHERITED METABOLIC DISEASE | 1990年 / 13卷 / 05期
关键词：
D O I：
10.1007/BF01799572
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
In order to determine which are useful early diagnostic markers for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, we have analysed urine from an asymptomatic neonate. Profiling of urinary organic acids followed by peak confirmation by electron impact mass spectrometry revealed a high suberate/adipate ratio (>1.0) and the presence of n-hexanoylglycine (HG). Acylcarnitine analysis by fast atom bombardment mass spectrometry (FAB-MS) was inconclusive, but FAB-MS/MS (tandem mass spectrometry) revealed diagnostic amounts of octanoylcarnitine and hexanoylcarnitine. Quantitative analysis of acylglycines by stable istotope dilution and chemical ionization mass spectrometry revealed a 30-fold increase in HG and increased suberylglycine, but no increase in 3-phenylpropionylglycine. © 1990 SSIEM and Kluwer Academic Publishers.
引用
收藏
页码：707 / 715
页数：9
相关论文
共 21 条
[1]   ACYLCOENZYME-A DEHYDROGENASE-DEFICIENCY IN HEART-TISSUE FROM INFANTS WHO DIED UNEXPECTEDLY WITH FATTY CHANGE IN THE LIVER [J].
ALLISON, F ;
BENNETT, MJ ;
VARIEND, S ;
ENGEL, PC .
BRITISH MEDICAL JOURNAL, 1988, 296 (6614) :11-12
[2]  
BENNETT MJ, 1987, LANCET, V1, P440
[3]   THE INCIDENCE AND PRESENTATION OF DICARBOXYLIC ACIDURIA [J].
BENNETT, MJ ;
WORTHY, E ;
POLLITT, RJ .
JOURNAL OF INHERITED METABOLIC DISEASE, 1987, 10 (03) :241-242
[4]  
BENNETT MJ, 1989, FATTY ACID OXIDATION, P349
[5]   GENETIC DEFICIENCY OF MEDIUM-CHAIN ACYL COENZYME-A DEHYDROGENASE - STUDIES IN CULTURED SKIN FIBROBLASTS AND PERIPHERAL MONONUCLEAR LEUKOCYTES [J].
COATES, PM ;
HALE, DE ;
STANLEY, CA ;
CORKEY, BE ;
CORTNER, JA .
PEDIATRIC RESEARCH, 1985, 19 (07) :671-676
[6]   GENERALIZED DICARBOXYLIC ACIDURIA - A COMMON FINDING IN NEONATES [J].
DOWNING, M ;
ROSE, P ;
BENNETT, MJ ;
MANNING, NJ ;
POLLITT, RJ .
JOURNAL OF INHERITED METABOLIC DISEASE, 1989, 12 :321-324
[7]  
DURAN M, 1986, PEDIATRICS, V78, P1052
[8]   GENERAL (MEDIUM-CHAIN) ACYL-COA DEHYDROGENASE-DEFICIENCY (NON-KETOTIC DICARBOXYLIC ACIDURIA) - QUANTITATIVE URINARY-EXCRETION PATTERN OF 23 BIOLOGICALLY SIGNIFICANT ORGANIC-ACIDS IN 3 CASES [J].
GREGERSEN, N ;
KOLVRAA, S ;
RASMUSSEN, K ;
MORTENSEN, PB ;
DIVRY, P ;
DAVID, M ;
HOBOLTH, N .
CLINICA CHIMICA ACTA, 1983, 132 (02) :181-191
[9]   DEFICIENCY OF MEDIUM CHAIN FATTY ACYLCOENZYME-A DEHYDROGENASE PRESENTING AS THE SUDDEN INFANT DEATH SYNDROME [J].
HOWAT, AJ ;
BENNETT, MJ ;
VARIEND, S ;
SHAW, L .
BRITISH MEDICAL JOURNAL, 1984, 288 (6422) :976-976
[10]   DEFECTS OF METABOLISM OF FATTY-ACIDS IN THE SUDDEN INFANT DEATH SYNDROME [J].
HOWAT, AJ ;
BENNETT, MJ ;
VARIEND, S ;
SHAW, L ;
ENGEL, PC .
BRITISH MEDICAL JOURNAL, 1985, 290 (6484) :1771-1773
123