Tyrosinemia is an inherited autosomal recessive condition. We present a 5 week-old boy with this disorder. He was admitted because of a fever, vomiting and lethargy. The laboratory tests confirmed a coagulopathy with prolonged prothrombin time (PT), partial thromboplastin time (PTT) and a decreased serum fibrinogen. The alpha-fetoprotein level was markedly elevated. To confirm the diagnosis of tyrosinemia, quantitative urinary succinylacetone was measured. Although overt liver failure with coagulopathy may be part of the representation of tyrosinemia, a significant coagulopathy in the absence of overt signs of liver disease has not been emphasized as a clue to the diagnosis of this condition.
|Published - Jul 2001