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
Inborn Errors of Metabolism: Pathophysiological Insights, Diagnostic Advances, and Evolving Treatment Paradigms.
Sadaria R. · 2026-06-19
open access unreviewed -
3
When two rare diseases meet: atypical hemolytic uremic syndrome and alkaptonuria in two siblings.
Karaca C, Karatas B, Tunc R, Erdem M, Dincer MT, Mirioglu S. · 2026-09-30
unreviewed -
4
Spectrum of inherited metabolic disorders diagnosed through newborn screening and symptomatic referrals in Eastern Türkiye.
Arslan S, Ekinci Uğan F, Yaralı O, Kahveci H. · 2026-09-04
open access unreviewed -
5
Plasma and urinary NMR metabolic profiling of the phenylalanine-tyrosine pathway in nitisinone-treated alkaptonuria: comparison of two dosing regimens and identification of a candidate pharmacodynamic biomarker.
Grasso D, Balloni V, Bianchi E, Mazzon A, Bardelli M, Iacomelli G, Peruzzi L, Frediani B, Santucci A, Bernini… · 2026-08-28
unreviewed -
6
Urinary creatinine in very low gestational age neonates: importance for interpretation of creatinine-normalized urinary amino acids.
Bugajska J, Berska J, Zasada M, Kwinta P, Tomasik P, Sztefko K. · 2026-09-07
open access unreviewed -
7
A case of alkaptonuria diagnosed after hip arthroplasty.
Jiang Q, Chen X, Yu C. · 2026-08-04
unreviewed -
8
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 -
9
Cerebral Regional Oxygen Saturation Monitoring Using ForeSight in a Patient with Alkaptonuria Undergoing Aortic Valve Replacement.
Sunami S, Tokinaga Y, Kurosaki H, Aratani Y, Kawamata T. · 2026-05-15
unreviewed -
10
Deciphering and improving human homogentisate 1,2-dioxygenase function through knowledge gaining directed evolution: implications for alkaptonuria.
Lequeue S, Neuckermans J, Desmet L, Salvi NS, Vanhaecke T, Schwaneberg U, De Kock J. · 2026-08-28
unreviewed
External claims. These come from an index outside this database and are not checked against it. Treat them as leads.