North K N, Hoppel C L, De Girolami U, Kozakewich H P, Korson M S
Department of Medicine, Children's Hospital, Boston, Massachusetts, USA.
J Pediatr. 1995 Sep;127(3):414-20. doi: 10.1016/s0022-3476(95)70073-0.
We describe neonatal onset of a lethal multiorgan deficiency of carnitine palmitoyltransferase II (CPT II) associated with dysmorphic features, cardiomyopathy, and cystic dysplasia of the brain and kidneys. Concentrations of long-chain acylcarnitines were evaluated in blood and multiple tissues, diffuse lipid accumulation was present at autopsy, and a profound deficiency of CPT II activity was evident in heart, liver, muscle, and kidney tissue. This disorder constitutes another recognizable malformation syndrome with a metabolic basis. Deficiency of CPT II should be included in the differential diagnosis of patients with cystic renal dysplasia, dysmorphism, central nervous system malformations, and early death, along with glutaric acidemia type II, Zellweger syndrome, and other disorders in which peroxisomal beta-oxidation is impaired. The clinicopathologic similarities among these disorders raise the possibility that a common biochemical mechanism, namely the disruption of beta-oxidation of fatty acids, is responsible for the abnormal organogenesis.
我们描述了一例新生儿期出现的致死性肉碱棕榈酰转移酶II（CPT II）多器官缺乏症，伴有畸形特征、心肌病以及脑和肾的囊性发育异常。对血液和多种组织中的长链酰基肉碱浓度进行了评估，尸检时发现弥漫性脂质蓄积，且在心脏、肝脏、肌肉和肾脏组织中明显存在CPT II活性严重缺乏。这种疾病构成了另一种可识别的具有代谢基础的畸形综合征。CPT II缺乏症应纳入对患有肾囊性发育异常、畸形、中枢神经系统畸形和早期死亡的患者的鉴别诊断中，同时还包括II型戊二酸血症、泽尔韦格综合征以及其他过氧化物酶体β氧化受损的疾病。这些疾病之间的临床病理相似性提示，一种共同的生化机制，即脂肪酸β氧化的破坏，可能是器官发生异常的原因。
