glycogen storage disease type 0A

MeSH: C565485ORPHA: 2089

Contents

1. Overview
2. Available Treatments
3. Clinical Presentation
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 glycogen storage disease type 0A, sourced from HPO and Orphanet clinical annotations.

IrritabilityKetosisKetonuriaGlycosuriaPostprandial hyperglycemiaKetotic hypoglycemiaSeizureLethargyGlobal developmental delayFailure to thriveElevated circulating hepatic transaminase concentrationHyperlipidemiaShort statureAbnormality of the gastrointestinal tract

Classification & Codes

MeSH Code

C565485

Orphanet Code

ORPHA:2089

glycogen storage disease type 0A

MeSH	`C565485`
Orphanet	`ORPHA:2089`
Treatments	0 drug(s)
Symptoms on record	14 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO