Clinical Findings in a Patient with Untreated Hereditary Tyrosinemia Type I

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).