Tyrosinemia type I

MONDO:0010161

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.

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, 3 tagged with Tyrosinemia type I itself.

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Where it sits in the disease tree

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↑ Tyrosinemia (6)

Including sub-types (3) Tagged with Tyrosinemia type I (3)

Not yet finished but already full! 2 Completed 1

New medical food tolerability study for rare metabolic conditions

Disease control Completed

This study looked at whether a special medical food called Express Plus is acceptable for children and adults with certain inherited metabolic disorders like PKU and maple syrup urine disease. Over 28 days, 28 participants tried the product and reported how well they liked it, ho…

Sponsor: Vitaflo International, Ltd • Aim: Disease control

Last updated Jun 27, 2026 12:34 UTC

Tyrosinemia type I

Where it sits in the disease tree

New medical food tolerability study for rare metabolic conditions