Title:Tyrosinemia type I should be suspected in infants with severe coagulopathy even in the absence of other signs of liver failure
标题：重度凝血病婴儿缺乏肝衰竭的其他症状也应怀疑 I 型高酪氨酸血症
Content/内容：
1) Tyrosinemia type I is an inherited metabolic disorder attributable to deficiency of fumarylacetoacetate hydrolase, a terminal enzyme in the degradation pathway of tyrosine.
高酪氨酸血症 I 型是一种由延胡索酰乙酰乙酸酶缺乏所致的遗传性代谢性疾病，此酶是酪氨酸降解通道中的末端添加酶。
2) Affected individuals may present with any of a number of signs and symptoms, including failure to thrive, fever, vomiting, diarrhea, hepatomegaly, ascites, jaundice, renal Fanconi syndrome, or conditions such as rickets and hepatocellular carcinoma.
受累个体可出现许多症状与体征,包括生长停止、发热呕吐、腹泻、肝肿大、腹水、黄疸、肾范可尼综合征，或佝偻病与肝细胞癌之类病症。
3) If untreated, the patient may die of acute liver failure before the second year of life, or from chronic liver failure or hepatocellular carcinoma before the end of the second decade of life.
若未予治疗，患者可以在2岁前死于急性肝衰竭，或在20岁前死于慢性肝衰蝎或肝细胞癌。
4) Although overt liver failure with coagulopathy may be part of the presentation 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.
虽然重度肝衰竭伴凝血病可能是高酪氨酸血症的部分表现，但缺乏明显肝病体征而出现重度凝血病作为诊断此病的线索以往并未受到重视。
5) We report two tyrosinemic infants who presented with severe coagulopathies and no other signs of liver failure to stress this diagnostic point.
作者报道2例出现重度凝血病但无其他肝衰蝎体征的高酪氨酸血症患儿，以强调此病症的诊断要点。
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