Phosphorylated glycolytic intermediates in liver and blood cells in members of a family with glycogenosis type I

Abstract

1. 1. Using trichloroacetic acid (TCA) extraction, ion-exchange chromatography on DEAE-Sephadex columns and chemical and enzymic analyses, normal levels of glycogen, glucose 6-phosphate (G6P), fructose 6-phosphate (F6P) and ribose 5-phosphate were found in blood cells from three of four siblings with type 1 glycogenosis, and also in their father and a healthy brother. In the fourth affected sibling, normal amounts of G6P and F6P were found by enzymic techniques without prior column chromatography. Fructose 1,6-diphosphate (FDP) was decreased in all four cases, but was normal in their relatives. 2. 2. No G6P, F6P or FDP was detected in plasma from two healthy children and one of the glycogenosis cases in tests using enzymic technique without column chromatography. 3. 3. Heavy increase of G6P and slightly smaller increase of F6P and FDP were observed in liver from two of the glycogenosis cases as compared with levels in adults with uncomplicated cholelithiasis (TCA extraction and enzymic analysis). 4. 4. The possible significance of the increased G6P for the accumulation of glycogen in the liver is discussed. 5. 5. Lack of G6P-dehydrogenase, which has been claimed by some writers to coexist with deficiency of glucose 6-phosphatase in glycogenosis, was not found in our patients.