[Neonatal lactic acidosis and hypoglycemia due to a congenital hepatic fructose-1,6-diphosphatase deficiency].
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.
D000138:Acidosis / Q000209:etiology*; D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis / Q000178:diet therapy; D002675:Child, Preschool; D003241:Consanguinity; D005632:Fructose; D006597:Fructose-Bisphosphatase / Q000378:metabolism*; D005947:Glucose; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology*; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000209:etiology*; D007773:Lactates; D008099:Liver / Q000648:ultrastructure; D008297:Male; D011773:Pyruvates
D007773:Lactates; D011773:Pyruvates; D005632:Fructose; D006597:Fructose-Bisphosphatase; D005947:Glucose
Acidose lactique et hypoglycemie a debut neonatal par deficit congenital en fructose-1,6-diphosphatase hepatique