Haemorrhagic diathesis as a possible early sign of hereditary fructose intolerance.
An infant girl three weeks of age with the leading symptom of skin haemorrhages is presented. On further investigation, the signs of severe hepatic damage with hypofibrinogenaemia and prothrombin complex impairment, and renal tubular dysfunction were disclosed. All these pathological symptoms, which were reversed on fructose free diet, were caused by hereditary fructose intolerance.
D000347:Afibrinogenemia / Q000209:etiology; D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications*; D005260:Female; D005633:Fructose Intolerance / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006474:Hemorrhagic Disorders / Q000209:etiology*; D006801:Humans; D007020:Hypoprothrombinemias / Q000209:etiology; D007231:Infant, Newborn