argininosuccinic aciduria
ICD-10: E72.2MeSH: D056807ORPHA: 23
Overview
amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and 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 argininosuccinic aciduria, sourced from HPO and Orphanet clinical annotations.
HypertensionIntellectual disabilitySeizureAtaxiaLethargySpecific learning disabilityRespiratory alkalosisVomitingHepatomegalyDrowsinessEEG abnormalityTachypneaElevated circulating hepatic transaminase concentrationElevated plasma citrullineNeurodevelopmental delayArgininosuccinic aciduriaMonilethrixIncreased circulating argininosuccinic acidRenal insufficiencyCarious teethPsychosisSelf-mutilationDelayed speech and language developmentEczematoid dermatitisMotor delayMuscle weaknessDystoniaTremorCirrhosisHepatic fibrosisHepatic failureThrombocytosisDiarrheaHypertriglyceridemiaPatchy alopeciaGlobal brain atrophyHypokalemiaOroticaciduriaPili tortiChronic pancreatitisPeriventricular leukomalaciaAttention deficit hyperactivity disorderFocal T2 hyperintense basal ganglia lesionTrichorrhexis nodosaAbnormal hair quantityArrhythmiaHepatocellular carcinomaHyperammonemiaHyperglutaminemiaAminoaciduriaHypoargininemiaHeadacheMental confusionSlurred speech
Classification & Codes
ICD-10 Code
E72.2MeSH Code
D056807Orphanet Code
ORPHA:23argininosuccinic aciduria
| ICD-10 | E72.2 |
| MeSH | D056807 |
| Orphanet | ORPHA:23 |
| Treatments | 0 drug(s) |
| Symptoms on record | 54 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO