Hereditary fructose intolerance with early onset
Mercier, J.C.; Bourrillon, A.; Beaufils, F.; Odievre, M.
Archives Francaises de Pediatrie 33(10): 945-953
1976
ISSN/ISBN: 0003-9764 PMID: 1015980 Document Number: 109773
Four cases 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 fuction tests. Investigations into aetiology include a search for bacterial or viral infection and particularly for a metabolic cause, especially in hereditary fructose intolerance which may be difficult to distinguish from tyrosinosis. Methods of treatment are discussed; they include continuous glucose infusion, exchange transfusion, assisted ventilation and dietary measures beginning with protein exclusion. The importance of careful observation is stressed, particularly in sequential studies of blood clotting factors.