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argininemia

MeSH: D020162ORPHA: 90

Contents

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

Overview

urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine

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 argininemia, sourced from HPO and Orphanet clinical annotations.

Atypical behaviorSeizureGlobal developmental delayHyperammonemiaAbnormal speech patternEEG abnormalityProgressive spastic quadriplegiaHemiplegia/hemiparesisDiaminoaciduriaSevere intellectual disability

Classification & Codes

MeSH Code

D020162

Orphanet Code

ORPHA:90
argininemia
MeSHD020162
OrphanetORPHA:90
Treatments0 drug(s)
Symptoms on record10 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO