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
Europe PMC · fetched just now · sorted by publication date
-
1
Specific knockout of kidney homogentisate 1,2-dioxygenase reveals that local metabolism of tyrosine and homogentisic acid is negligible in alkaptonuria.
Rutland DA, Norman BP, Hughes JH, Wilson PJM, Sutherland H, Brown RLW, Gallagher JA, Ranganath LR, Bou-Ghario… · 2026-05-01
open access unreviewed -
2
Isolation and purification of κ-casein glycomacropeptide: A review.
Nakano T, Silva-Hernandez E, Betti M. · 2026-05-11
unreviewed -
3
A Survey of Current Australasian Practices in the Use of Residual Bloodspots for the Addition of a New Disorder to the Screening Panel.
Greed L, Pitt J, Greaves RF, Coleman K, Crisp G, Ranieri E, de Hora M, Webster D, Heather N, Human Genetics S… · 2026-03-30
open access unreviewed -
4
Literature horizon scan for new scientific data on plants, microorganisms and animals, and their products obtained by new genomic techniques (October 2025).
European Food Safety Authority (EFSA), Ardizzone M, Bonatti M, Branchi A, Goumperis T, Jacchia S, Kagkli DM, … · 2026-02-17
cited 1× open access unreviewed -
5
Inborn Errors of Amino Acid Metabolism Revisited: Clinical Implications and Insights into Current Therapies.
Shakerdi AL, Nerney D, Molloy EJ, Knerr I. · 2025-12-10
open access unreviewed -
6
Paediatric acute liver failure: A prospective, nationwide, population-based surveillance study in Germany.
Lenz D, Abdulaziz M, Peters B, Wagner M, Schlieben LD, Corman VM, Baumann U, Bufler P, Dattner T, Ganschow R,… · 2025-07-07
cited 2× open access unreviewed -
7
RNA-based therapies in liver metabolic diseases.
Fontanellas A, Berraondo P, Urigo F, Jericó D, Martini PGV, Pastor F, Avila MA. · 2025-08-07
cited 12× open access unreviewed -
8
The β-triketone, nitisinone, kills insecticide-resistant mosquitoes through cuticular uptake.
Stavrou-Dowd ZT, Parsons G, Rose C, Brown F, Lees RS, Acosta-Serrano Á, Haines LR. · 2025-07-31
cited 1× open access unreviewed -
9
Heterogeneity and plasticity of cholangiocytes in liver injury: a journey from pathophysiology to therapeutic utility.
Lou C, Lan T, Xu S, Hu X, Li J, Xiang Z, Lin S, Fan X, Chen J, Xu X. · 2025-06-09
cited 6× open access unreviewed -
10
New treatment for pyridoxine-dependent epilepsy due to ALDH7A1 deficiency: first proof-of-principle of upstream enzyme inhibition in the mouse.
van Karnebeek CDM, Gailus-Durner V, Engelke UF, Seisenberger C, Marschall S, Dragano NRV, da Silva-Buttkus P,… · 2025-10-14
cited 3× open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.