Alkaptonuria
ICD-10: E70.29MeSH: D000474ORPHA: 56
Overview
Alkaptonuria is an autosomal recessive metabolic disorder caused by deficiency of homogentisate 1,2-dioxygenase, resulting in accumulation of homogentisic acid. Characteristic features include dark urine upon standing, ochronosis (bluish-black pigmentation of connective tissues), and progressive arthropathy typically manifesting in the third to fourth decade. The estimated prevalence is 1 in 250,000 to 1 in 1,000,000, with higher rates in certain populations such as Slovakia and the Dominican Republic.
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Alkaptonuria, sourced from HPO and Orphanet clinical annotations.
Hearing abnormalityAbnormality of visionAbnormality of skin pigmentationArthritisJoint dislocationJoint swellingJoint stiffnessCoronary artery calcificationOsteoarthritisArthralgiaAminoaciduriaIntervertebral disk calcificationIrregular hyperpigmentationOchronosisElevated urinary homogentisic acidCalcification of cartilageProstatitisAbnormality of the noseNephrolithiasisAbnormal nail morphologyAortic valve stenosisAbnormal heart valve morphologyBack painAortic valve calcificationMitral valve calcificationThickened Achilles tendonPigmentation of the scleraDark urineTendon ruptureCartilage destructionOil-drop brown pigmentation of the corneal limbusGlaucomaHypothyroidismHypertensionMitral regurgitationMyocardial infarctionMitral stenosisHemolytic anemiaAtherosclerosisScoliosisIncreased susceptibility to fracturesReduced bone mineral densityAortic aneurysmOcular hypertensionAmyloid depositionBlack pigment gallstonesMethemoglobinemiaCorneal astigmatismProstatic calculusDark cerumen
Classification & Codes
ICD-10 Code
E70.29MeSH Code
D000474Orphanet Code
ORPHA:56Alkaptonuria
| ICD-10 | E70.29 |
| MeSH | D000474 |
| Orphanet | ORPHA:56 |
| Treatments | 0 drug(s) |
| Symptoms on record | 50 signs |
| Status | published |
Factual Authority
Last Updated3/21/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO