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

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Abstract

Tyrosinemia type I is an inherited metabolic disorder attributable to deficiency of fumarylaceto-acetate hydrolase, a terminal enzyme in the degradation pathway of tyrosine. 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. 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. 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. We report two tyrosinemic infants who presented with severe coagulopathies and no other signs of liver failure to stress this diagnostic point.

Original languageEnglish
Pages (from-to)675-678
Number of pages4
JournalPediatrics
Volume103
Issue number3
DOIs
StatePublished - 1999

Fingerprint

Tyrosinemias
Liver Failure
Hepatocellular Carcinoma
Fanconi Syndrome
Failure to Thrive
Rickets
End Stage Liver Disease
Hepatomegaly
Acute Liver Failure
Hydrolases
Jaundice
Ascites
Signs and Symptoms
Vomiting
Tyrosine
Liver Diseases
Diarrhea
Acetates
Fever
Enzymes

Keywords

  • Coagulopathy
  • Liver failure
  • Tyrosinemia
  • α-fetoprotein

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

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abstract = "Tyrosinemia type I is an inherited metabolic disorder attributable to deficiency of fumarylaceto-acetate hydrolase, a terminal enzyme in the degradation pathway of tyrosine. 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. 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. 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. We report two tyrosinemic infants who presented with severe coagulopathies and no other signs of liver failure to stress this diagnostic point.",
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T1 - Tyrosinemia type 1 should be suspected in infants with severe coagulopathy even in the absence of other signs of liver failure

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N2 - Tyrosinemia type I is an inherited metabolic disorder attributable to deficiency of fumarylaceto-acetate hydrolase, a terminal enzyme in the degradation pathway of tyrosine. 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. 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. 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. We report two tyrosinemic infants who presented with severe coagulopathies and no other signs of liver failure to stress this diagnostic point.

AB - Tyrosinemia type I is an inherited metabolic disorder attributable to deficiency of fumarylaceto-acetate hydrolase, a terminal enzyme in the degradation pathway of tyrosine. 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. 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. 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. We report two tyrosinemic infants who presented with severe coagulopathies and no other signs of liver failure to stress this diagnostic point.

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