Two Cases of Acute Form of Tyrosinemia Type I
Journal of the Korean Pediatric Society
;
: 131-136, 2002.
Article
in Korean
| WPRIM
| ID: wpr-92921
ABSTRACT
Tyrosinemia type I is an autosomal recessive disorder of amino acid metabolism and is caused by a deficiency of fumarylacetoacetate hydrolase(FAH), the last enzyme in the catabolic pathway of tyrosine. The disease is characterized by hepatic dysfunction, hepatocellular carcinomas, renal tubular dysfunction, rickets, and neurologic crises. We experienced 2 cases(a 4-day-old girl, a 7- month-old girl) of acute form of tyrosinemia type I. Case 1 was presented with tachypnea, vomiting and prolonged PT and aPTT. Case 2 was presented with systemic jaundice, irritability, an odor resembling boiled cabbage, and hepatic dysfunction. The diagnosis was made by demonstrating elevated plasma levels of tyrsione and other amino acids, and urinary excretion of succinylacetone. Both of the patients had a significant coagulopathy which was not treated by transfusion of fresh frozen plasma and cryoprecipitate. We report two tyrosinemic infants who were presented with severe coagulopathy.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Plasma
/
Rickets
/
Tyrosine
/
Vomiting
/
Brassica
/
Carcinoma, Hepatocellular
/
Tyrosinemias
/
Diagnosis
/
Tachypnea
/
Amino Acids
Type of study:
Diagnostic study
Limits:
Female
/
Humans
/
Infant
Language:
Korean
Journal:
Journal of the Korean Pediatric Society
Year:
2002
Type:
Article
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