Tyrosinemias
Recent clinical, regulatory, research and industry developments relating to this disease.
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
Research activity
Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.
Major themes2
- Gene Editing1
- Tyrosinemias1
Leading journals1
- Nature communications1
Leading researchers8
- Cao X1
- Guo R1
- Hu C1
- Huo X1
- Li G1
- Li Z1
- Liu X1
- Liu Y1
Affiliations (unnormalised)6
- Center for Reproductive Medicine1
- College of Animal Science and Technology1
- Institute of Neuroscience1
- Lingang Laboratory1
- National University of Singapore1
- School of Life Sciences and Technology1
Reference
Authoritative identity, definition & identifiers.
A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features INTELLECTUAL DISABILITY, painful corneal ulcers, and keratoses of the palms and plantar surfaces and is caused by a deficiency of the enzyme TYROSINE TRANSAMINASE. Type III tyrosinemia features INTELLECTUAL DISABILITY and is caused by a deficiency of the enzyme 4-HYDROXYPHENYLPYRUVATE DIOXYGENASE. (Menkes, Textbook of Child Neurology, 5th ed, pp42-3)
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
- Related entities are derived from literature co-mention (studied together) — associative, not causal.