Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy
Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy
复制标题
DOI：
10.1016/j.ymgme.2005.04.004
复制
发表时间：
2005-08-01
影响因子：
3.8
通讯作者：
Cederbaum, SD
中科院分区：
文献类型：
--
作者：
Mardach, R;Verity, MA;Cederbaum, SD
一个在9个月时被诊断为轻度丙酸血症的患者在8岁时的智力水平和神经功能水平接近正常。2周后，患者感觉“不舒服”，但功能正常，12小时后出现急性疾病，并死于心力衰竭和心室颤动。死后，尽管补充了肉毒碱，血浆肉毒碱水平反复正常，但心脏肥大，肉毒碱水平低。该患者的发现为丙酸血症中越来越明显的心脏并发症提供了可能的机制。(c) 2005爱思唯尔公司版权所有。
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.