Glycogen storage disease type XI

ORPHA: 2088

Contents

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

Overview

Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism

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 XI, sourced from HPO and Orphanet clinical annotations.

Failure to thriveRenal tubular acidosisHypophosphatemiaHyperphosphaturiaGalactose intoleranceIncreased hepatic glycogen contentImpaired glucose toleranceAbnormal hepatic glycogen storageGrowth delayMetabolic acidosisHypercalciuriaHepatomegalyRicketsGlycosuriaFasting hypoglycemiaAbdominal distentionPostprandial hyperglycemiaNephropathyNephrocalcinosisDiabetes mellitusOsteopeniaHepatic failureHypertriglyceridemiaGeneralized aminoaciduriaElevated circulating alkaline phosphatase concentrationBowing of the long bonesBone fractureElevated circulating aspartate aminotransferase concentrationElevated circulating alanine aminotransferase concentrationDoll-like faciesHepatocellular carcinoma

Classification & Codes

Orphanet Code

ORPHA:2088

Glycogen storage disease type XI

Orphanet	`ORPHA:2088`
Treatments	0 drug(s)
Symptoms on record	31 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO