Hendrickx J, Willems P J
Department of Medical Genetics, University of Antwerp, Belgium.
Hum Genet. 1996 May;97(5):551-6. doi: 10.1007/BF02281858.
Several types of glycogen storage disease attributable to a deficiency of phosphorylase or phosphorylase kinase have been described. These diseases have been divided according to clinical symptoms, mode of inheritance, and affected tissue. However, this classification is questionable, as the clinical symptoms of these different diseases are similar, the mode of inheritance is often difficult to establish, and the biochemical assays are subject to several technical problems. A better classification would be based upon the identification of mutations in the respective disease genes. The molecular heterogeneity, however, is large, and at least 10 genes are involved. Mutations have been found in the muscle phosphorylase gene in patients with muscle phosphorylase deficiency, in the gene encoding the liver alpha subunit of phosphorylase kinase in patients with X-linked liver glycogenosis, and in the gene for the muscle alpha subunit of phosphorylase kinase in a patient with muscle phosphorylase kinase deficiency. We review here the different deficiencies of the phosphorylase system.
已经描述了几种由磷酸化酶或磷酸化酶激酶缺乏引起的糖原贮积病。这些疾病已根据临床症状、遗传方式和受影响的组织进行了分类。然而，这种分类存在问题，因为这些不同疾病的临床症状相似，遗传方式往往难以确定，而且生化检测存在一些技术问题。更好的分类应该基于各自疾病基因中突变的鉴定。然而，分子异质性很大，至少涉及10个基因。在肌肉磷酸化酶缺乏的患者中，在肌肉磷酸化酶基因中发现了突变；在X连锁肝糖原贮积症患者中，在编码磷酸化酶激酶肝α亚基的基因中发现了突变；在一名肌肉磷酸化酶激酶缺乏的患者中，在磷酸化酶激酶肌肉α亚基的基因中发现了突变。我们在此综述磷酸化酶系统的不同缺陷。
