Abstract
Extract: A female infant with a progressive liver disorder associated with persistent lactacidemia and a tendency toward hypoglycemia was studied. The disorder appeared to be hereditary since the parents were consanguinous and there had been two siblings with the same disease. The existing fasting lactacidemia increased after administration of oral hexose or casein (Figs. 1 and 2). Levels of blood glucose declined to 26 mg/100 ml after casein challenge but the leucine tolerance test was normal. In a liver sample obtained postmortem at 6 months of age as well as in liver tissue from a control subject, pyruvatc carboxylase, phosphoenolpyruvate carboxykinase, fructose-1,6-diphos-phatase, and glucose 6-phosphatase activities were measured (Table I). Fructose-1,6-diphosphatase activity was found to be very low. Blocked gluconeogenesis due to a deficiency of fructose-1,6-diphosphatase is assumed to be the cause of this inborn error of metabolism.
Speculation: Some cases of congenital lactacidemia may be due to defective gluconeogenesis caused by a deficiency of one of the key enzymes of gluconeogenesis.
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Hülsmann, W., Fernandes, J. A Child with Lactacidemia and Fructose Diphosphatase Deficiency in the Liver. Pediatr Res 5, 633–637 (1971). https://doi.org/10.1203/00006450-197111000-00008
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DOI: https://doi.org/10.1203/00006450-197111000-00008
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