hyperlysinemia
MeSH: D020167ORPHA: 2203
Overview
amino acid metabolic disorder that involves an abnormal increase of lysine in the blood
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 hyperlysinemia, sourced from HPO and Orphanet clinical annotations.
Upgaze palsyTip-toe gaitNeck hypertoniaNasogastric tube feedingThin eyebrowAbnormality of movementMicrocephalyAtypical behaviorShort attention spanDelayed speech and language developmentIntellectual disabilitySeizureGlobal developmental delayHyperammonemiaHyperlysinemiaCystinuriaArgininuriaHyperlysinuriaShort statureFloppy infantEEG with spike-wave complexesAbnormal circulating enzyme concentration or activityDecreased urine alpha-ketoglutarate concentrationNeurodevelopmental delayHypoornithinemiaDecreased CSF arginine concentrationIncreased CSF lysine concentrationAbnormal CSF ornithine concentrationHigh palateSmooth philtrumDepressed nasal ridgeStrabismusHypotelorismHyperactivitySpastic diplegiaSpastic tetraparesisDysmetriaTremorBrisk reflexesCraniosynostosisFailure to thriveAbnormal facial shapeVomitingDysphagiaGastroesophageal refluxPoor suckOpisthotonusIncoordinationClumsinessPulmonary artery hypoplasiaRecurrent pneumoniaBorderline intellectual disabilityHypoplastic helicesHypoplasia of the antihelixSimple febrile seizureMild global developmental delayFeeding difficulties
Classification & Codes
MeSH Code
D020167Orphanet Code
ORPHA:2203hyperlysinemia
| MeSH | D020167 |
| Orphanet | ORPHA:2203 |
| Treatments | 0 drug(s) |
| Symptoms on record | 57 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO