Tyrosinemia type 1. Acute form. Tyrosine aminotransferase deficiency. Fumarylacetoacetase deficiency.
Incidence
AR inheritance
Clinical Characteristics
Early infantile onset with hepatic failure, melena, epistaxis, hepatomegaly, failure to thrive (FTT), diarrhea. Death occurs by 1 year. Start within a first weeks from birth. Biological evidence of renal tubular dysfunction
Precipitants
yes, infections may precede an acute neurological crisis.
Provocation Tests
none
Diagnostic Procedures
EB-liver, EB-kidney, EB-F, EB-W