Carnitine palmitoyl transferase II (CPT II) catalyzes the release of activated long-chain fatty acids from acylcarnitines into mitochondria for subsequent fatty acid oxidation. Depending on residual enzyme activity, deficiency of this enzyme leads to a spectrum of symptoms from early onset hypoglycemia, hyperammonemia, cardiomyopathy and death to onset of recurrent rhabdomyolysis in adolescents and young adults. We present a case of successful orthotopic heart transplantation in a patient with severe infantile onset cardiomyopathy due to CPT II deficiency identified through newborn screening. Excellent cardiac function is preserved 12 years post-transplantation; however, the patient has developed intermittent episodes of hyperammonemia and rhabdomyolysis later in childhood and early adolescence readily resolved with intravenous glucose. Successful heart transplant in this patient demonstrates the feasibility of this management option in patients with even severe forms of long chain fatty acid oxidation disorders.

肉碱棕榈酰转移酶 II (CPT II) 催化活化的长链脂肪酸从酰基肉碱释放到线粒体中，用于随后的脂肪酸氧化。根据残留的酶活性，这种酶的缺乏会导致一系列症状，从早期发作的低血糖症、高氨血症、心肌病和死亡到青少年和年轻成人复发性横纹肌溶解症的发作。我们介绍了一个成功的原位心脏移植病例，该病例是通过新生儿筛查发现的 CPT II 缺乏导致的严重婴儿型心肌病患者。移植后 12 年仍保持良好的心脏功能；然而，患者在儿童后期和青春期早期出现间歇性高氨血症和横纹肌溶解，静脉注射葡萄糖很容易解决。