tyrosinemia type 1

Etiology

fumarylacetoacetase deficiency

Genetics

• autosomal recessive
• associated with defects in FAH gene

Clinical manifestations

• acute & chronic forms
• acute form: hepatic failure & death in infancy
• chronic form:
  • hepatosplenomegaly
  • nodular hepatic cirrhosis
  • hepatocellular carcinoma
  • renal tubule defects in reabsorption
• vitamin D-resistant rickets

Laboratory

• elevated blood tyrosine
• enhanced urine tyrosine & tyrosine metabolites

Management

• dietary restriction of tyrosine & phenylalanine alleviates rickets
• liver transplantation is only definite treatment

More general terms

• tyrosinemia

Database

• OMIM: https://mirror.omim.org/entry/276700