Tyrosinemia type I
MONDO:0010161Tyrosinemia 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.
Also known as: FAH deficiency, Tyrosinemia Type 1, fumarylacetoacetase deficiency, fumarylacetoacetate hydrolase deficiency, hepatorenal tyrosinemia, type I tyrosinemia, tyrosinemia type I, Fah deficiency
3 clinical trials for this condition and its sub-types.
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Disease
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Metabolic disease
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Hereditary disease
(176)
Inborn errors of metabolism
(45)
Human disease
(14)
Tyrosinemia
(6)
Inborn disorder of amino acid metabolism
(4)
Disease of genetic or genomic mechanism
(2)
Amino acid metabolism disease
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Disease by developmental or physiological process
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