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gamma-glutamylcysteine synthetase deficiency

MeSH: C565557ORPHA: 33574

Contents

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

Overview

Gamma-glutamylcysteine synthetase deficiency is principally characterized by hemolytic anemia, (usually rather mild), however, the presence of neurological symptoms has also been reported

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 gamma-glutamylcysteine synthetase deficiency, sourced from HPO and Orphanet clinical annotations.

Hemolytic anemiaSpinocerebellar tract degenerationMyopathyAminoaciduriaPeripheral neuropathyPsychosisJaundiceIntellectual disabilityAtaxiaDysarthriaGlobal developmental delayHyperreflexiaHepatosplenomegalyReticulocytosisDyslexia

Classification & Codes

MeSH Code

C565557

Orphanet Code

ORPHA:33574
gamma-glutamylcysteine synthetase deficiency
MeSHC565557
OrphanetORPHA:33574
Treatments0 drug(s)
Symptoms on record15 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO