homocystinuria
MeSH: D006712ORPHA: 394
Overview
amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine
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 homocystinuria, sourced from HPO and Orphanet clinical annotations.
Dental crowdingOsteoporosisEctopia lentisArachnodactylyIntellectual disabilityDisproportionate tall statureHyperhomocystinemiaRecurrent fracturesAbnormality of amino acid metabolismMyopiaAmblyopiaPectus excavatumPectus carinatumHypertensionJoint stiffnessPes cavusPulmonary embolismSparse scalp hairCerebral ischemiaScoliosisKyphosisGenu valgumArterial thrombosisVenous thrombosisArteriovenous malformationHigh palateStrabismusGlaucomaCataractRetinal detachmentOptic atrophyAtypical behaviorPsychosisDepressionAutistic behaviorAnxietyHypopigmentation of the skinUrticariaLens subluxationSeizureParkinsonismSpecific learning disabilityDystoniaPancreatitisSubcutaneous hemorrhageAnorexiaEsophageal varixAbnormality of extrapyramidal motor functionIntracranial hemorrhageGastrointestinal hemorrhageHepatomegalyEEG abnormalityAbnormal cerebral white matter morphologyElevated circulating hepatic transaminase concentrationHemiplegia/hemiparesisAbnormal retinal pigmentationObsessive-compulsive traitNeurodevelopmental delayMalar rashLivedo reticularisCerebral venous sinus thrombosisHernia
Classification & Codes
MeSH Code
D006712Orphanet Code
ORPHA:394homocystinuria
| MeSH | D006712 |
| Orphanet | ORPHA:394 |
| Treatments | 0 drug(s) |
| Symptoms on record | 62 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO