肉碱棕榈酰转移酶缺乏症：临床变异性、携带者检测及常染色体隐性遗传

Carnitine palmityl transferase deficiency: clinical variability, carrier detection, and autosomal-recessive inheritance.

作者信息

Angelini C, Freddo L, Battistella P, Bresolin N, Pierobon-Bormioli S, Armani M, Vergani L

出版信息

Neurology. 1981 Jul;31(7):883-6. doi: 10.1212/wnl.31.7.883.

DOI:10.1212/wnl.31.7.883

PMID:7195512

Abstract

A 21-year-old man had recurrent myoglobinuria; his 28-year-old sister had symptoms of fatigability. During prolonged fasting, serum free fatty acid rose in both siblings, but only the sister produced ketone bodies and had elevated creatine phosphokinase activity. Carnitine palmityl transferase (CPT) activity was less than 30% of normal in muscle and platelets. Liver biopsy disclosed a low level of the enzyme in the brother. The parents had intermediate levels of the enzyme in platelets. CPT deficiency seems to have an autosomal-recessive pattern of inheritance and a variable phenotypic expression.

摘要

一名21岁男性反复出现肌红蛋白尿；他28岁的姐姐有疲劳症状。在长时间禁食期间，两姐弟的血清游离脂肪酸均升高，但只有姐姐产生酮体且肌酸磷酸激酶活性升高。肌肉和血小板中的肉碱棕榈酰转移酶（CPT）活性低于正常水平的30%。肝脏活检显示该男性患者肝脏中的该酶水平较低。其父母血小板中的该酶水平处于中间值。CPT缺乏似乎呈常染色体隐性遗传模式且具有可变的表型表达。