Tyrosinemia type 1 should be suspected in infants with severe coagulopathyeven in the absence of other signs of liver failure

Tyrosinemia type 1 is an inherited metabolic disorder attributable to defic iency of fumarylacetoacetate hydrolase, a terminal enzyme-in the degradatio n pathway of tyrosine. Affected individuals may present with any of a numbe r of signs and symptoms, including failure to thrive, fever, vomiting, diar rhea, hepatomegaly, ascites, jaundice, renal Fanconi syndrome, or condition s such as rickets and hepatocellular carcinoma. If untreated, the patient m ay die of acute liver failure before the second year of life, or from chron ic liver failure or hepatocellular carcinoma before the end of the second d ecade of life.(2) Although overt liver failure with coagulopathy may be part of the presentat ion of tyrosinemia, a significant coagulopathy in the absence of overt sign s of liver disease has not been emphasized as a clue to the diagnosis of th is condition. We report two tyrosinemic infants who presented with severe c oagulopathies and no other signs of liver failure to stress this diagnostic point.