Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy

被引：80

作者：

Mardach, R

Verity, MA

Cederbaum, SD

机构：

[1] Reg Metab Ctr, Kaiser Permanente Med Grp, Los Angeles, CA 90027 USA

[2] Univ Calif Los Angeles, David Geffen Sch Med, Dept Pathol, Los Angeles, CA USA

[3] Univ Calif Los Angeles, David Geffen Sch Med, Dept Psychiat, Los Angeles, CA USA

[4] Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, Los Angeles, CA USA

[5] Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA USA

[6] Univ Calif Los Angeles, David Geffen Sch Med, Dept Mental Retardat, Res Ctr, Los Angeles, CA USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2005年 / 85卷 / 04期

关键词：

propionic acidemia; cardiomyopathy; carnitine deficiency;

D O I：

10.1016/j.ymgme.2005.04.004

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A patient diagnosed at 9 months with a milder form of propionic acidemia was functioning at a near normal intellectual level and a normal neurological level at age 8. After 2-week history of feeling "poorly" but functioning normally, she became acutely ill and succumbed to heart failure and ventricular fibrillation in 12 h. At post-mortem the heart was hypertrophied and had low carnitine levels, despite carnitine supplementation and repeatedly normal plasma carnitine levels. The findings in this patient provide a possible mechanism for the cardiac complications that are becoming more apparent in propionic acidemia. (c) 2005 Elsevier Inc. All rights reserved.

引用

页码：286 / 290

页数：5

共 9 条

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