Tyrosinemia type 1

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Synonyms: FAH deficiency | Fumarylacetoacetase deficiency | Fumarylacetoacetate hydrolase deficiency | Hepatorenal tyrosinemia | Tyrosinemia type I

A rare inborn error of tyrosine catabolism characterized by progressive liver disease renal tubular dysfunction porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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Tyrosinemia type 1?

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Advocacy Organizations

Cache DNA

At Cache, we are on a mission to store the biomolecules of today in order to unlock the possibilities of tomorrow. Our vision is to create a scalable, sustainable, and standardized platform for reliable storage and access of biomolecules by combining chemistry, biology, automation, and computational tools to support patient advocacy groups worldwide and better connect samples to insights.

flok Health (formerly National PKU News)

National PKU News provides resources and support for individuals, families, and clinicians managing PKU (Phenylketonuria) and other inborn errors of metabolism. Our mission is to leverage innovation, insight, and research to improve the health, well-being, and daily lives of those with PKU and other IEMs.

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Clinical Trials

For a list of clinical trials in this disease area, please click here.