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tyrosinemia type 1
Etiology: fumarylacetoacetase deficiency
Genetics:
- autosomal recessive
- associated with defects in FAH gene
Clinical manifestations:
1) acute & chronic forms
2) acute form: hepatic failure & death in infancy
3) chronic form:
- hepatosplenomegaly
- nodular hepatic cirrhosis
- hepatocellular carcinoma
- renal tubule defects in reabsorption
4) vitamin D-resistant rickets
Laboratory:
1) elevated blood tyrosine
2) enhanced urine tyrosine & tyrosine metabolites
Management:
- dietary restriction of tyrosine & phenylalanine alleviates rickets
- liver transplantation is only definite treatment
General
tyrosinemia
Database Correlations
OMIM 276700
References
- Stedman's Medical Dictionary 27th ed, Williams &
Wilkins, Baltimore, 1999
- UniProt :accession P16930
- GeneReviews
http://www.genetests.org/query?gene=FAH