tyrosinemia type I
Findings
No curated finding names tyrosinemia type I yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Tyrosinemia type 1 (HTI) is an inborn error of tyrosine catabolism caused by defective activity of fumarylacetoacetate hydrolase (FAH) and is characterized by progressive liver disease, renal tubular dysfunction, porphyria-like crises and a dramatic improvement in prognosis following treatment with nitisinone.
Definition from the Mondo Disease Ontology (MONDO:0010161), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
21 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Diminished tissue fumarylacetoacetate hydrolase activityHPOHP:6000827
- 9 of 9 reported patients
- Elevated circulating succinylacetone concentrationHPOHP:6001410
- 1 of 1 reported patient
- Hepatic failureHPOHP:0001399
- 18 of 18 reported patients
- Generalized aminoaciduriaHPOHP:0002909
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- 12 of 18 reported patients
- Metabolic acidosisHPOHP:0001942
- 12 of 18 reported patients
- Enlarged kidney
Show the remaining 9
- Acute hepatic failureHPOHP:0006554
- Occasional (5% to 29% of cases)
- Hepatocellular carcinomaHPOHP:0001402
- Occasional (5% to 29% of cases)
- Rickets of the lower limbsHPOHP:0006463
- Occasional (5% to 29% of cases)
- SplenomegalyHPOHP:0001744
- 6 of 17 reported patients
- Occasional (5% to 29% of cases)
- Episodic vomitingHPOHP:0002572
- 7 of 18 reported patients
- MelenaHPOHP:0002249
- 5 of 18 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FAHHGNC:3579
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · Myriad Women's Health · Autosomal recessive · 2019
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
6 names
Resolves to: tyrosinemia type I
- Also called
- FAH deficiencyfumarylacetoacetase deficiencyfumarylacetoacetate hydrolase deficiencyhepatorenal tyrosinemiatype I tyrosinemiaTyrosinemia Type 1