Pompe Disease

Category	Subcategory	Details
News	December 7, 2023	Mitochondria dysfunction linked to cardiomyopathy in Pompe patients
		Study from China
		Patient-derived heart cell model
		Characteristics of Pompe disease
	December 8, 2023	India’s first Pompe disease patient, Nidhi Shirol, passes away
		Age at death: 24 years
		Last six years in a semi-comatose state
What	Genetic condition	Lysosomal storage disease
		Lysosomes as cell compartments
		Glycogen storage disease type II (GSD2)
		Acid alpha-glucosidase (GAA) deficiency
Why	Mutations in GAA gene	Causes reduced or lack of GAA enzyme
		Autosomal recessive inheritance
		Both parents carriers
Where	Glycogen buildup	In lysosomes
		Organs and tissues affected, especially heart and skeletal muscles
When	Types	Infantile-onset: Within first year, often around 4 months
		Late-onset: Any age, from infancy to adulthood
Who	Prevalence	1 in 40,000 in the United States
	Affected individuals	Infants, children, adults
How	Diagnosis	Physical exam, family history
		Blood tests for muscular damage
		Enzyme activity analysis
		Genetic testing
		Additional tests: Pulmonary function tests, Electromyography, Heart studies (EKG, echo), Sleep studies
	Treatment	Enzyme replacement therapy (ERT): Alglucosidase alfa, Avalglucosidase alfa
		Supportive care: Physical, occupational, respiratory therapy; Cardiologists; Neurologists
		Additional needs: Feeding tube, Mechanical ventilation
		Research: Gene therapy clinical trials ERT improves heart size, function, muscle function, tone, strength, reduces glycogen buildup
Challenges	Early detection crucial	Lifelong management
	No cure	Progressive muscle weakness
Way Forward	Ongoing research	Gene therapy
		Support and counseling: Psychologist, Support groups, Caregiver support