A case of mitochondrial trifunctional protein deficiency diagnosed by acylcarnitine profile and DNA analysis in a dried blood spot of a 4-day-old boy

被引：15

作者：

Lee, JE

Yoon, HR

Paik, KH

Hwang, SJ

Shim, JW

Chang, YS

Park, WS

Strauss, AW

Jin, DK

机构：

[1] Sungkyunkwan Univ, Sch Med, Dept Pediat, Samsung Med Ctr, Seoul, South Korea

[2] Inha Univ, Coll Med, Dept Pediat, Inchon, South Korea

[3] Seoul Med Sci Inst SCL, Metab Dis Detect Lab, Seoul, South Korea

[4] Vanderbilt Univ, Dept Pediat, Nashville, TN USA

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 2003年 / 26卷 / 04期

关键词：

D O I：

10.1023/A:1025119505982

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

We report a Korean case, consistent with a biochemical diagnosis of trifunctional protein (TFP) deficiency, in which molecular diagnosis revealed a novel mutation in the alpha-subunit of TFP and the rare combination of two intergenic region (C/C and G/G) polymorphisms.

引用

页码：403 / 406

页数：4