Enzyme or protein defect
Fumarylacetoacetate hydrolase
Accumulates or becomes deficient
Succinylacetone
Key features
Liver failure, renal Fanconi syndrome, hepatocellular carcinoma, cabbage-like odour
Management
Nitisinone plus Phe/Tyr-restricted diet
Not clinical guidance. Written from standard clinical biochemistry, not from the uploaded documents, and marked unreviewed. Teaching-level reference for study and database seeding only. It must not be used to manage a patient.
Recent literature
Nothing is fetched until you ask, so the page stays fast and the request is yours rather than automatic.
Europe PMC · ten most recent, newest first