Tyrosinemia type 1. Chronic form. Tyrosine aminotransferase deficiency. Fumarylacetoacetase deficiency.
Incidence
AR inheritance.
Clinical Characteristics
Chronic hepatic failure with hypophosphatemic rickets and the Toni-Fanconi syndrome are presenting features. Hypertrophic obstructive cardiomyopathy can be present. A"porphyria-like" picture with abdominal crisis, polyneuropathy, hypertension occur interm Normocytic anemia, leukocytosis, elevated liver enzymes, hematuria, massive aminoaciduria, glycosuria & phosphaturia are present.. Renal failure occur eventually. Liver transplant improves the disease transiently.
Precipitants
Intercurrent infections may trigger a porphyria-like crisis.
Provocation Tests
none
Diagnostic Procedures
EB-liver, EB-kidney, EB-F, EB-W