Fyfe J C, Giger U, Van Winkle T J, Haskins M E, Steinberg S A, Wang P, Patterson D F
Section of Medical Genetics, School of Veterinary Medicine, University of Pennsylvania, Philadelphia 19104-6010.
Pediatr Res. 1992 Dec;32(6):719-25. doi: 10.1203/00006450-199212000-00020.
Glycogen storage disease type IV due to branching enzyme deficiency was found in an inbred family of Norwegian forest cats, an uncommon breed of domestic cats. Skeletal muscle, heart, and CNS degeneration were clinically apparent and histologically evident in affected cats older than 5 mo of age, but cirrhosis and hepatic failure, hallmarks of the human disorder, were absent. Beginning at or before birth, affected cats accumulated an abnormal glycogen in many tissues that was determined by histochemical, enzymatic, and spectral analysis to be a poorly branched alpha-1,4-D-glucan. Branching enzyme activity was less than 0.1 of normal in liver and muscle of affected cats and partially deficient (0.17-0.75 of normal) in muscle and leukocytes of the parents of affected cats. These data and pedigree analysis indicate that branching enzyme deficiency is a simple autosomal recessive trait in this family. This is the first reported animal model of human glycogen storage disease type IV. A breeding colony derived from a relative of the affected cats has been established.
在挪威森林猫（一种不常见的家猫品种）的一个近亲繁殖家族中发现了因分支酶缺乏导致的IV型糖原贮积病。5月龄以上的患病猫临床可见骨骼肌、心脏和中枢神经系统退化，组织学检查也很明显，但未出现人类该疾病的典型特征——肝硬化和肝衰竭。从出生时或出生前开始，患病猫在许多组织中积累了一种异常糖原，通过组织化学、酶学和光谱分析确定其为一种分支不良的α-1,4-D-葡聚糖。患病猫肝脏和肌肉中的分支酶活性不到正常水平的0.1，患病猫父母的肌肉和白细胞中的分支酶活性部分缺乏（为正常水平的0.17 - 0.75）。这些数据和系谱分析表明，分支酶缺乏在这个家族中是一种简单的常染色体隐性性状。这是首次报道的人类IV型糖原贮积病动物模型。已建立了一个源自患病猫亲属的繁殖群体。
