citrullinemia type II
ORPHA: 247585
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 citrullinemia type II, sourced from HPO and Orphanet clinical annotations.
Hepatic steatosisAcute hyperammonemiaElevated plasma citrullineDecreased body mass indexRestlessnessAggressive behaviorIrritabilityHallucinationsDelusionSeizureLethargyConfusionTremorHypertriglyceridemiaHepatomegalyDrowsinessMemory impairmentSleep disturbanceElevated circulating hepatic transaminase concentrationHypoalbuminemiaHypoproteinemiaHyperlipidemiaFluctuations in consciousnessAsterixisNight sweatsSleep terrorDeliriumAbnormal eating behaviorPsychosisHyperactivityEnuresisComaGlobal developmental delayHepatic fibrosisHepatocellular carcinomaPancreatitisVomitingDiarrheaCerebral edemaHepatic encephalopathyHypercholesterolemiaDecreased HDL cholesterol concentrationEcholaliaDelayed menarcheManiaInsomnia
Classification & Codes
Orphanet Code
ORPHA:247585citrullinemia type II
| Orphanet | ORPHA:247585 |
| Treatments | 0 drug(s) |
| Symptoms on record | 46 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO