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, 3 tagged with Tyrosinemia type I itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Part of
-
Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC
-
HT-1 drug study in china withdrawn before starting
Knowledge-focused CancelledThis study was designed to observe how patients with hereditary tyrosinemia type 1 (HT-1) in China respond to nitisinone treatment in everyday medical practice. It planned to track serious health events like liver problems or death. However, the study was withdrawn before enrolli…
Sponsor: Swedish Orphan Biovitrum • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:06 UTC