Enzyme or protein defect
Homogentisate 1,2-dioxygenase
Accumulates or becomes deficient
Homogentisic acid
Key features
Urine darkens on standing, ochronosis of cartilage, degenerative arthritis
Management
Usually benign; vitamin C, nitisinone in trials
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
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1
Shikimate crosstalk enables record-level homogentisic acid production in <i>Yarrowia lipolytica</i>.
Xu C, Zhang W, Zhao Q, Lin X, Wang K, Wang M, Tan T. · 2026-04-15
open access unreviewed -
2
Plasma Proteomic Signatures in Alkaptonuria.
Finetti R, Visibelli A, Roncaglia B, Trezza A, Peruzzi L, Marzocchi B, Spiga O, Cicogni M, Salvini L, Tinti L… · 2026-08-03
unreviewed -
3
A case of alkaptonuria diagnosed after hip arthroplasty.
Jiang Q, Chen X, Yu C. · 2026-08-04
unreviewed -
4
Incidental Discovery of Ochronosis During Total Knee Arthroplasty: A Case Report and Literature Review.
Demain A, Willemart E. · 2026-06-18
unreviewed -
5
Polychondritis and Arthritis in a Patient with Coexisting Alkaptonuria and Psoriasis Vulgaris.
Shono K, Kawakami E, Koto S, Fukui S, Jubashi T, Kojima K, Shimizu T, Koike H, Ueki N, Kawakami A. · 2025-12-11
unreviewed -
6
HGA-Induced Oxidative Stress Impairs Autophagy via Lysosomal Dysfunction in Alkaptonuria.
Mastroeni P, Trezza A, Visibelli A, Geminiani M, Santucci A. · 2026-06-30
unreviewed -
7
Tracheal ochronosis.
Vaithialingam B, Sravani K, Govindasamy R, Rudrappa S, Gopal S. · 2026-06-30
unreviewed -
8
Omics Data Integration: Focusing on Molecular Biomarkers for Cancers and Diseases
De Salvo L, Franchin C. · 2026-06-01
open access unreviewed -
9
Architecture and dynamics of a supramolecular oxygen transport system in human homogentisate 1,2-Dioxygenase.
Trezza A, Finetti R, Roncaglia B, Giuliani F, Furlan F, Santucci A. · 2026-06-11
unreviewed -
10
Emerging perspectives in proteostasis: bridging mechanisms and therapeutics for human diseases.
Borlepawar A, Neu M, Ma Z, Deshpande A, Bühringer H, Hajieva P, Frey N, Rangrez AY. · 2026-06-09
open access unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.