lethal congenital glycogen storage disease of heart

MeSH: C564888ORPHA: 4398542 Treatments Available

Contents

1. Overview
2. Available Treatments
3. Classification & Codes

Overview

glycogen storage disease characterized by autosomal dominant inheritance of glycogenosis confined to the heart, hypoglycemia and cyanosis that has material basis in heterozygous mutation in the PRKAG2 gene on chromosome 7q36

Available Treatments (2)

Drug	Form	Status	Countries	Lead Time
alglucosidase alfa Orphan Cold Chain	IV infusion, 50mg vial for reconstitution	FDA Approved, EMA Approved	7	7d
Digoxin	Oral tablets 0.125mg, 0.25mg; IV injection 0.25mg/mL	FDA Approved	10	7d

Classification & Codes

MeSH Code

C564888

Orphanet Code

ORPHA:439854

lethal congenital glycogen storage disease of heart

MeSH	`C564888`
Orphanet	`ORPHA:439854`
Treatments	2 drug(s)
Status	published

Treatment Summary

alglucosidase alfa· Orphan Digoxin

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO