Abstract
A white boy was healthy until age 6 wks. when CHO in his diet was changed from lactose to sucrose. Abruptly, he developed vomiting, jaundice, hypoglycemia and SGOT > 2000 U. Te fulminant course subsided with elimination of dietary fructose. Liver biopsy specimens failed to decarboxylate fructose 14C, and the diagnosis of fructose intolerance was confirmed by demonstrating less than 10% of normal hepatic aldolase activity (with fructose-1-phosphate or fructose-1,6-diphosphate as substrate). Glucose-6-phosphatase was 6x normal and phosphorylase 2x normal. Light microscopy revealed portal fibrosis, ductular proliferation, pseudoacinous formation and mild inflammatory changes. Mildly fibrotic changes persisted after 5 months. Electronmicroscopy showed hypertrophic endoplasmic reticulum, marked focal cytoplasmic degeneration, stacks of abnormal membranes, many unusual lipofuscin bodies and small α-glycogen particles. We found fructose-1-phosphate (but not galactose, fructose, galactose-1-phosphate or fructose-1,6-diphosphate) to be a competitive inhibitor of rabbit muscle phosphorylase b (Ki = 3 × 10−3 M) and human liver phosphorylase (Ki = 7 × 10−3M); Km of both enzymes for glucose-1-phosphate was of the same magnitude. Thus, glycolysis may be inhibited and hypoglycemia may result after fructose ingestion when intracellular fructose-1-phosphate would be elevated. (Supported by NIH grant RR 00123 and RR 05535)
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Bagnell, P., Hug, G., Walling, L. et al. BIOCHEMICAL AND MORPHOLOGIC OBSERVATIONS IN SEVERE INFANTILE FRUCTOSE INTOLERANCE. Pediatr Res 8, 430 (1974). https://doi.org/10.1203/00006450-197404000-00543
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DOI: https://doi.org/10.1203/00006450-197404000-00543