[Hereditary fructose intolerance with early onset].
Four cases of hereditary fructose intolerance with an early onset are reported. The features of acute liver failure in the neonatal period include a haemorrhagic syndrome, collapse, neurological features, hypoglycaemia, disturbed bleeding and clotting studies and abnormal liver function tests. Investigations into the aetiology include a search for bacterial or viral infection but particularly for a metabolic cause: especially for hereditary fructose intolerance which may be difficult to distinguish from tyrosinosis. Finally, methods of treatment are discussed: continuous glucose infusion, exchange transfusion, assisted ventilation, and dietary measures beginning with protein exclusion. The importance of careful observation is stressed (particularly sequential studies of bloodclotting factors).
D000410:Alanine Transaminase / Q000097:blood; D001778:Blood Coagulation Disorders / Q000209:etiology; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis; D003937:Diagnosis, Differential; D005078:Exchange Transfusion, Whole Blood; D005260:Female; D005633:Fructose Intolerance / Q000175:diagnosis / Q000178:diet therapy; D005634:Fructose-Bisphosphate Aldolase / Q000032:analysis; D005693:Galactosemias / Q000175:diagnosis; D006470:Hemorrhage / Q000209:etiology; D006529:Hepatomegaly / Q000209:etiology; D006801:Humans; D007003:Hypoglycemia / Q000209:etiology; D007223:Infant; D007231:Infant, Newborn; D007565:Jaundice / Q000209:etiology; D008099:Liver / Q000201:enzymology; D008111:Liver Function Tests; D009461:Neurologic Manifestations; D011379:Prognosis; D012131:Respiratory Insufficiency / Q000209:etiology; D014443:Tyrosine / Q000097:blood
D014443:Tyrosine; D000410:Alanine Transaminase; D005634:Fructose-Bisphosphate Aldolase
Intolérance héréditaire au fructose à révélation précoce