A patient with hereditary tyrosinemia Type I may develop a number of findings if left untreated due to the accumulation of toxic metabolites.

Gene affected: FAH (fumarylacetoacetate hydrolase)

Location: 15q25.1


Inheritance: autosomal recessive


Clinical findings may include:

(1) chronic liver disease

(2) acute hepatic failure

(3) renal tubular acidosis (Fanconi-type)

(4) acute crisis similar to those seen in acute intermittent porphyria (abdominal pain, peripheral neuropathy, change in mental status and respiratory failure)

(5) coagulopathy with prolonged PT and aPTT

(6) growth failure

(7) rickets

(8) malnutrition


The patient is at increased lifetime risk for hepatocellular carcinoma (HCC).

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