Mardach Rebecca, Verity M Anthony, Cederbaum Stephen D
Regional Metabolic Center, Kaiser Permanente Medical Group, 4700 Sunset Boulevard, Los Angeles, CA 90027, USA.
Mol Genet Metab. 2005 Aug;85(4):286-90. doi: 10.1016/j.ymgme.2005.04.004.
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.
一名9个月大时被诊断为丙酸血症较轻形式的患者，在8岁时智力水平接近正常，神经功能也正常。在经历了两周感觉“不适”但仍正常活动的病史后，她突然病情加重，在12小时内死于心力衰竭和心室颤动。尸检时发现心脏肥大，尽管补充了肉碱且血浆肉碱水平多次正常，但心脏肉碱水平仍较低。该患者的这些发现为丙酸血症中日益明显的心脏并发症提供了一种可能的机制。
