Pettersen J E, Winsnes A
Acta Paediatr Scand. 1981;70(3):309-13. doi: 10.1111/j.1651-2227.1981.tb16557.x.
Urine samples were collected before and after a starvation period of 14-16 h from patients with glycogen storage disease, one with type III (amylo-1,6-glucosidase deficiency), four with type VIII (phosphorylase-b-kinase deficiency), and one with an unclassified type. The excretion of adipic, suberic, and 3-hydroxybutyric acid was measured by combined gas chromatography-mass spectrometry. The tendency towards ketosis seemed to decline with age in the patients with type VIII. In the non-ketotic patients no excess amounts of dicarboxylic acids were excreted. Therefore, glycogen storage disease per se seems to have no direct relationship to the excretion of adipic or suberic acid. A positive correlation was, however, found between the urinary excretion of on one side 3-hydroxybutyric and on the other adipic (correlation coefficient (Kendall's tau) +0.64, P less than 0.002 (one-sided test)) or suberic (+0.61, P less than 0.003) acid. The two dicarboxylic acids are most probably formed from long-chain monocarboxylic acids by omega- and beta-oxidation. It is speculated that succinyl-CoA formed by this pathway may counteract the tendency to ketosis in patients with glycogen storage disease.
从糖原贮积病患者中收集尿液样本，这些患者在禁食14 - 16小时前后进行样本采集，其中1例为III型（淀粉-1,6-葡萄糖苷酶缺乏症），4例为VIII型（磷酸化酶b激酶缺乏症），1例为未分类类型。通过气相色谱-质谱联用测定己二酸、辛二酸和3-羟基丁酸的排泄量。VIII型患者的酮症倾向似乎随年龄下降。在非酮症患者中，未排泄过量的二羧酸。因此，糖原贮积病本身似乎与己二酸或辛二酸的排泄没有直接关系。然而，发现一方面3-羟基丁酸的尿排泄量与另一方面己二酸（相关系数（肯德尔tau）+0.64，P小于0.002（单侧检验））或辛二酸（+0.61，P小于0.003）之间存在正相关。这两种二羧酸很可能是由长链单羧酸通过ω-和β-氧化形成的。据推测，通过该途径形成的琥珀酰辅酶A可能抵消糖原贮积病患者的酮症倾向。
