Definition
Tyrosinemia type I is a metabolic disease characterized by fumarylacetoacetase enzyme deficiency, accompanied by liver failure and renal tubular dysfunction.
Symptoms
- Liver failure
- Renal Fanconi syndrome
- Neurological crises
- Hypertrophic cardiomyopathy
Reasons
FAH gene mutation.
Diagnosis
Plasma tyrosine, genetic testing.
Treatment
NTBC, dietary restriction.
Which Polyclinic Should You Apply To?
Metabolism Polyclinic
What to Do in an Emergency?
In case of liver failure, emergency services should be consulted.
This page is for general information purposes only.