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N-Acetylglutamate synthase deficiency

MeSH: C536109ORPHA: 927

Contents

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

Overview

N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia

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 N-Acetylglutamate synthase deficiency, sourced from HPO and Orphanet clinical annotations.

HyperammonemiaVomitingNauseaFloppy infantEmotional labilityAgitationAnxietySeizureLethargyComaGlobal developmental delayConfusionFailure to thriveHeadacheDrowsinessPoor speechHyperglutaminemiaHyperalaninemiaPoor appetiteLoss of consciousnessAcute hyperammonemiaFeeding difficultiesFatigueCognitive impairmentInsomniaMicrocephalyAtypical behaviorPsychotic episodesMotor stereotypyAtaxiaPolyneuropathyStrokeEncephalopathyDiarrheaRespiratory distressHepatomegalyCerebral ischemiaMyelodysplasiaReye syndrome-like episodesEcholaliaParaplegiaDelirium

Classification & Codes

MeSH Code

C536109

Orphanet Code

ORPHA:927
N-Acetylglutamate synthase deficiency
MeSHC536109
OrphanetORPHA:927
Treatments0 drug(s)
Symptoms on record42 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO