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Tyrosinemia

MONDO:0004741

An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs.

6 clinical trials for this condition and its sub-types, 6 tagged with Tyrosinemia itself.

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Where it sits in the disease tree

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Part of

↑ Disorder of tyrosine metabolism (8)

Sub-types of Tyrosinemia

Tyrosinemia type I 3 trials
Transient tyrosinemia of the newborn 0 trials
Tyrosinemia type II 0 trials
Tyrosinemia type III 0 trials

Including sub-types (6) Tagged with Tyrosinemia (6)

Trials to join now! 1 Not yet finished but already full! 2 Completed 3

New Cheese-Derived protein powders could make PKU diet easier

Disease control Recruiting now

This study is testing four new powdered protein substitutes made from a milk protein called GMP for people with PKU and tyrosinemia. These conditions require a special low-protein diet, and current formulas can be hard to tolerate. Over 29 days, researchers will check how well 40…

Sponsor: Nutricia UK Ltd • Aim: Disease control

Last updated Jun 27, 2026 08:05 UTC