glycogen storage disease IXb
MeSH: C563008ORPHA: 79240
Overview
Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK 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 IXb, sourced from HPO and Orphanet clinical annotations.
HypertriglyceridemiaHepatomegalyPostnatal growth retardationAbnormal circulating enzyme concentration or activityHepatic fibrosisElevated circulating hepatic transaminase concentrationHypercholesterolemiaFasting hypoglycemiaPolycystic ovariesDelayed speech and language developmentIrregular menstruationOligomenorrheaHypotoniaCirrhosisSplenomegalyRenal tubular acidosisRecurrent hypoglycemiaDelayed gross motor developmentRecurrent infectionsSkeletal muscle atrophyElevated circulating creatine kinase concentrationProgressive muscle weaknessLimb-girdle muscle weaknessMyalgiaMuscle spasmExercise intolerancePelvic girdle muscle weaknessShort statureMild global developmental delayFatigueKetotic hypoglycemiaDysmenorrheaOsteoporosisHepatocellular carcinomaAnemiaVomitingDiarrheaNauseaMyoglobinuriaLactic acidosisRhabdomyolysisIncreased body weightHepatocellular adenoma
Classification & Codes
MeSH Code
C563008Orphanet Code
ORPHA:79240glycogen storage disease IXb
| MeSH | C563008 |
| Orphanet | ORPHA:79240 |
| Treatments | 0 drug(s) |
| Symptoms on record | 43 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO