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  • Title: [Neonatal lactic acidosis and hypoglycemia due to a congenital hepatic fructose-1,6-diphosphatase deficiency].
    Author: Retbi JM, Gabilan JC, Marsac C.
    Journal: Arch Fr Pediatr; 1975 Apr; 32(4):367-80. PubMed ID: 169761.
    Abstract:
    Famialial defect of hepatic fructose-1,6-diphosphatase. Diagnosis was suspected in a male newborn since a brother was also concerned by the disease. The disease may be therefore diagnosed early, when the onset is neonatal. In the neonatal distress syndromes due to hereditery disorders of metabolism, a semiologic field may be isolated in which symptoms begin after an interval of short duration with hypoglycemia, hepatomegaly, lactic acidosis and ketosis ("enlarged liver hypoglycemia"). This possibility leads first to a symptomatic treatment of hypoglycemia and acidoketosis, then to the feeding with human milk and simple functional tests for the diagnostic approach.
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