Pompe Disease

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NewsDecember 7, 2023Mitochondria dysfunction linked to cardiomyopathy in Pompe patients
Study from China
Patient-derived heart cell model
Characteristics of Pompe disease
December 8, 2023India’s first Pompe disease patient, Nidhi Shirol, passes away
Age at death: 24 years
Last six years in a semi-comatose state
WhatGenetic conditionLysosomal storage disease
Lysosomes as cell compartments
Glycogen storage disease type II (GSD2)
Acid alpha-glucosidase (GAA) deficiency
WhyMutations in GAA geneCauses reduced or lack of GAA enzyme
Autosomal recessive inheritance
Both parents carriers
WhereGlycogen buildupIn lysosomes
Organs and tissues affected, especially heart and skeletal muscles
WhenTypesInfantile-onset: Within first year, often around 4 months
Late-onset: Any age, from infancy to adulthood
WhoPrevalence1 in 40,000 in the United States
Affected individualsInfants, children, adults
HowDiagnosisPhysical 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
TreatmentEnzyme 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
ChallengesEarly detection crucialLifelong management
No cureProgressive muscle weakness
Way ForwardOngoing researchGene therapy
Support and counseling: Psychologist, Support groups, Caregiver support

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