Dicarboxylic aciduria during ketotic phases in various types of glycogen storage disease.
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.
D000138:Acidosis / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D003998:Dicarboxylic Acids / Q000652:urine*; D005215:Fasting; D005260:Female; D006008:Glycogen Storage Disease / Q000150:complications / Q000378:metabolism*; D006801:Humans; D007223:Infant; D007662:Ketosis / Q000209:etiology / Q000378:metabolism*; D008297:Male
D003998:Dicarboxylic Acids