glycogen storage disease due to glucose-6-phosphatase deficiency type IB

MeSH: C562594ORPHA: 79259

Contents

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

Overview

Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)

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 due to glucose-6-phosphatase deficiency type IB, sourced from HPO and Orphanet clinical annotations.

Growth delayProtuberant abdomenHypoglycemiaHyperuricemiaHypertriglyceridemiaHepatomegalyHyperlipidemiaHypercholesterolemiaLactic acidosisShort statureIncreased hepatic glycogen contentAbnormal circulating enzyme concentration or activityEnlarged kidneyPolycystic ovariesFull cheeksRound faceIrregular menstruationOsteoporosisGlobal developmental delayMotor delayHepatic steatosisFailure to thrivePancreatitisRecurrent bacterial infectionsAbnormal myeloid leukocyte morphologyUlcerative colitisDecreased circulating vitamin D concentrationThyroiditisPersistently decreased total neutrophil countProteinuriaNephrocalcinosisMenorrhagiaOral ulcerGingivitisEpistaxisCarious teethDelayed eruption of permanent teethPeriodontitisNephrolithiasisHypothyroidismHypertensionDelayed pubertyOsteopeniaBruising susceptibilityXanthelasmaAbnormal bleedingAnemiaDiarrheaInflammation of the large intestineHypoglycemic seizuresIncreased susceptibility to fracturesEnterocolitisTubulointerstitial fibrosisProlonged bleeding following procedureHepatocellular adenomaAbnormality of von Willebrand factorPulmonary venous hypertensionCognitive impairmentHepatocellular carcinomaGoutStage 5 chronic kidney disease

Classification & Codes

MeSH Code

C562594

Orphanet Code

ORPHA:79259

glycogen storage disease due to glucose-6-phosphatase deficiency type IB

MeSH	`C562594`
Orphanet	`ORPHA:79259`
Treatments	0 drug(s)
Symptoms on record	61 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO