[Liver failure with coagulopathy in an infant with tyrosinemia].
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.
Nussinovitch
M
M
Department of Pediatrics, Schneider Children's Medical Center of Israel, Petah Tikva, Israel.
Campino
G
G
Shapira
R
R
Voluvitz
B
B
Amir
J
J
D015415:Biomarkers / Q000652:urine; D004211:Disseminated Intravascular Coagulation / Q000209:etiology*; D006537:Heptanoates / Q000652:urine; D006801:Humans; D007223:Infant; D017093:Liver Failure / Q000209:etiology; D008297:Male; D010314:Partial Thromboplastin Time; D011517:Prothrombin Time; D020176:Tyrosinemias / Q000150:complications* / Q000175:diagnosis*
D015415:Biomarkers; D006537:Heptanoates; C020804:succinylacetone