RETROSPECTIVE DIAGNOSIS OF MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY

被引：2

作者：

CHRISTODOULOU, J

CLARKE, JTR

RUPAR, CA

GORDON, BA

KELLY, DP

机构：

[1] HOSP SICK CHILDREN,DIV CLIN GENET,TORONTO M5G 1X8,ONTARIO,CANADA

[2] CHILDRENS PSYCHIAT RES INST,DEPT BIOCHEM,LONDON,ON,CANADA

[3] WASHINGTON UNIV,SCH MED,DEPT INTERNAL MED,ST LOUIS,MO 63110

[4] UNIV WESTERN ONTARIO,LONDON N6A 3K7,ONTARIO,CANADA

[5] CHILDRENS PSYCHIAT RES INST,DEPT PAEDIAT,LONDON,ON,CANADA

来源：

JOURNAL OF PAEDIATRICS AND CHILD HEALTH | 1993年 / 29卷 / 03期

关键词：

FATTY ACID OXIDATION; MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY; MUTATION ANALYSIS; POLYMERASE CHAIN REACTION;

D O I：

10.1111/j.1440-1754.1993.tb00496.x

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A male infant is reported who died suddenly and who at post-mortem had pathological evidence suggestive of a genetic defect of fatty acid beta-oxidation. A specific diagnosis could not be made enzymatically because of unavailability of suitable tissue for assay. The diagnosis of medium chain acyl-CoA dehydrogenase (MCAD) deficiency was made by specific mutation analysis using the polymerase chain reaction and DNA extracted from the newborn screening card of this infant. This powerful new molecular diagnostic technique should prove to be of use in similar circumstances.

引用

页码：237 / 238

页数：2

共 7 条

[1]

COATES PM, 1992, 2ND P INT S CLIN BIO, P499

[2]

HARPEY JP, 1990, BIOL NEONATE, V58, P70, DOI 10.1159/000243301

[3] DEFICIENCY OF MEDIUM CHAIN FATTY ACYLCOENZYME-A DEHYDROGENASE PRESENTING AS THE SUDDEN INFANT DEATH SYNDROME [J].