ornithine translocase deficiency
MeSH: C538380ORPHA: 415
Overview
amino acid metabolic disorder that has material basis in deficiency of ornithine translocase resulting in the accumulation of ammonia 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 ornithine translocase deficiency, sourced from HPO and Orphanet clinical annotations.
HyperreflexiaHyperammonemiaAbnormal circulating citrulline concentrationHyperornithinemiaNeurodevelopmental delayCognitive impairmentIntellectual disabilityLethargySpastic paraplegiaConfusionGeneralized hypotoniaSpecific learning disabilityDecreased liver functionFailure to thriveProtein avoidanceProgressive cerebellar ataxiaCerebral cortical atrophyClonusHepatomegalyIncoordinationImpaired vibratory sensationEpisodic vomitingTachypneaElevated circulating hepatic transaminase concentrationOroticaciduriaAcute encephalopathyAbnormal pyramidal signSpeech apraxiaFeeding difficultiesHepatitisSeizureComaRespiratory alkalosisSpastic gaitGeneralized myoclonic seizureAbnormality of the coagulation cascadeMultifocal cerebral white matter abnormalitiesChorioretinal atrophyHepatic failureChorioretinal hypopigmentation
Classification & Codes
MeSH Code
C538380Orphanet Code
ORPHA:415ornithine translocase deficiency
| MeSH | C538380 |
| Orphanet | ORPHA:415 |
| Treatments | 0 drug(s) |
| Symptoms on record | 40 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO