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encephalopathy due to GLUT1 deficiency

ICD-10: G93.4MeSH: C536830ORPHA: 71277

Contents

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

Overview

disease

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 encephalopathy due to GLUT1 deficiency, sourced from HPO and Orphanet clinical annotations.

Progressive microcephalySeizureAtaxiaSpasticityGlobal developmental delayEncephalopathyDystoniaAbnormal erythrocyte morphologyStatus epilepticusEEG abnormalityHypoglycorrhachiaDelayed speech and language developmentCyanosisIntellectual disabilityLethargyDysarthriaChoreoathetosisHemiparesisHypertoniaConfusionChoreaHeadacheParalysisMuscle stiffnessGeneralized hyperreflexiaExtrapyramidal dyskinesiaParoxysmal involuntary eye movementsDyskinesiaStrabismusMyoclonusApraxiaSleep disturbanceCentral apnea

Classification & Codes

ICD-10 Code

G93.4

MeSH Code

C536830

Orphanet Code

ORPHA:71277
encephalopathy due to GLUT1 deficiency
ICD-10G93.4
MeSHC536830
OrphanetORPHA:71277
Treatments0 drug(s)
Symptoms on record33 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO