glycogen storage disease VI

MeSH: D006013ORPHA: 369

Contents

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

Overview

Glycogen storage 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 glycogen storage disease VI, sourced from HPO and Orphanet clinical annotations.

OsteopeniaOsteoporosisFailure to thriveHepatomegalyIncreased hepatic glycogen contentDelayed pubertyGrowth delayHypoglycemiaKetosisElevated circulating hepatic transaminase concentrationIrritabilityHypotoniaMotor delayHepatic fibrosisSleep disturbanceHyperlipidemiaAbdominal distentionExercise-induced muscle crampsShort statureIntermittent lactic acidemiaPortal fibrosisPostexertional symptom exacerbationAbnormality of the kidneyProteinuriaCirrhosisHepatocellular carcinomaHypertrophic cardiomyopathyPostprandial hyperlactemia

Classification & Codes

MeSH Code

D006013

Orphanet Code

ORPHA:369

glycogen storage disease VI

MeSH	`D006013`
Orphanet	`ORPHA:369`
Treatments	0 drug(s)
Symptoms on record	28 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO