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citrullinemia type I

ORPHA: 247525

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

medical condition

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 I, sourced from HPO and Orphanet clinical annotations.

HyperammonemiaElevated plasma citrullineHepatic failureAbnormality of the nervous systemSeizureLethargySpasticityFailure to thriveRespiratory alkalosisVomitingModerate intellectual disabilityHepatic encephalopathyBorderline intellectual disabilityFeeding difficultiesTorticollisScotomaAtaxiaHypotoniaMild intellectual disabilityComaSlurred speechGastroesophageal refluxMigraineHeadacheIncreased intracranial pressureTachypneaLoss of consciousnessAnkle clonus

Classification & Codes

Orphanet Code

ORPHA:247525
citrullinemia type I
OrphanetORPHA:247525
Treatments0 drug(s)
Symptoms on record28 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO