Tyrosinemia type 1

Last revised by Daniel J Bell on 10 May 2020

Tyrosinemia type 1 is an autosomal recessive disorder of metabolic origin. Progressive renal tubular defects and hepatocellular carcinoma are the primary manifestations.

More common in Turkey, India and Europe.

Presentation is typically in the first few months of life with:

Hereditary tyrosinemia type I is caused by a deficiency of fumarylacetoacetate. High serum succinylacetone and tyrosine levels are diagnostic, with serum succinylacetone levels being more reliable.

Treatment options include the early use of nitisinone, and a diet of low protein, tyrosine and phenylalanine. Early intervention decreases the chance of malignancy, as well as prolonging survival. Liver transplant is reserved for patients with poor response to nitisinone therapy.

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