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ornithine carbamoyltransferase deficiency

MeSH: D020163ORPHA: 664

Contents

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

Overview

urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase

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 carbamoyltransferase deficiency, sourced from HPO and Orphanet clinical annotations.

Hepatic failureSplenomegalyHypoglycemiaHyperammonemiaAminoaciduriaSeizureHypotoniaLethargyComaEncephalopathyRespiratory alkalosisPoor suckProtein avoidanceAnorexiaHypothermiaDrowsinessElevated circulating hepatic transaminase concentrationOroticaciduriaLow plasma citrullineHypoargininemiaDepressionAnxietySpecific learning disabilityFailure to thriveEpisodic vomitingConjugated hyperbilirubinemiaProlonged partial thromboplastin timeAttention deficit hyperactivity disorderDelirium

Classification & Codes

MeSH Code

D020163

Orphanet Code

ORPHA:664
ornithine carbamoyltransferase deficiency
MeSHD020163
OrphanetORPHA:664
Treatments0 drug(s)
Symptoms on record29 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO