THIRD EDITION
Factsheet
Condition:
Tyrosinemia
Inheritance:
Autosomal recessive
Genetic Etiology:
Mutation in FAH gene encoding fumarylacetoacetase
Frequency:
Approximately 1/100,000 births
Clinical features:
Tyrosinemia presents in infants or young child with liver failure and renal dysfunction, and eventual development of hepatocellular carcinoma. Untreated children develop neurological episodes of altered mental status, abdominal pain, and respiratory failure. Most do not survive untreated past 10 years.
Management:
Administration of nitisinone, which inhibits tyrosine degradation, avoiding toxic buildup of fumarylacetoacetate and succinylacetone; low tyrosine diet.
Genetic counseling:
Based on autosomal recessive inheritance; molecular genetic testing available.