Pompe's Disease: Types, Causes, Symptoms, Diagnosis and Treatment

The inherited disorder known as Pompe’s disease causes glycogen, a complex sugar, to build up in bodily cells. Acid alfa glucosidase (GAA), an enzyme that helps the body break down complex carbohydrates, is deficient due to the condition. This buildup, which particularly affects muscles, causes the tissues and organs within them to deteriorate.

This condition is brought on by mutations in the GAA gene, which facilitates glycogen breakdown.

Types Of Pompe’s Disease

• Infantile Onset Pompe Disease: Cardiomyopathy, respiratory dysfunction, and severe hypotonia are its hallmarks.
• Late-Onset Pompe disease: May manifest as early as one year of age or as late as adulthood, characterised by myalgia, intolerance to physical activity, and weariness. It develops to severe respiratory failure and motor impairment. Late-onset Pompe disease (LOPD) is a classification covering the infantile form, childhood, adolescent, and adult forms of glycogen storage disorder.
• The typical infantile onset: Within a few months of birth, it manifests. Infants struggle to acquire weight and grow at the expected pace and experience muscle weakness, low muscle tone, an enlarged liver, breathing difficulties, and heart problems. Heart failure-related death occurs in the first year of life if untreated.
• Non-traditional infantile-onset: It first appears at around one year of age. Delay in motor abilities and gradual muscle weakening are its hallmarks. Although the heart may be too big, most affected people do not develop heart failure. Most children only survive into early infancy due to the severe respiratory issues caused by the disorder's muscle weakness.

Causes Of Pompes Disease

Pompe disease is brought on by GAA gene mutations. Acid alpha-glucosidase, also referred to as acid maltase, is an enzyme that is produced according to instructions from the GAA gene. Lysosomes, which are cellular organelles that act as recycling hubs, are where this enzyme is active. Normally, the enzyme converts glycogen into glucose, a less complex sugar that serves as the primary energy source for the majority of cells.

Acid alpha-glucosidase is unable to properly break down glycogen due to mutations in the GAA gene, allowing this sugar to accumulate in lysosomes to lethal amounts. This accumulation harms the body's muscles, organs, and tissues in general, causing Pompe disease's increasing signs and symptoms.

Symptoms Of Pompes Disease

Depending on when the condition manifests itself, symptoms can differ a little. The following signs are present in infants:

Classic type

• Weak muscles
• Poor muscle tone
• Greater liver size
• Failure to thrive (failure to acquire weight and expand as anticipated)
• Respiratory difficulty
• Issues with feeding
• Breathing-related infections
• Audiological issues

Unusual type

• Inability to sit and roll over as a result of delayed motor skills
• Weakening of muscles over time
• Breathing issues Unusual big heart

Adult-onset is a late-onset kind, which

• Weakening occurs gradually in the trunk and legs.
• Difficulty breathing
• A cardiac condition that makes walking more challenging widespread muscle pain
• Reduction in exercise capacity
• Frequently falling
• Many lung infections
• Breathing difficulty after exerting extra effort
• Morning headaches
• Daytime fatigue
• Reducing weight
• Swallowing is more difficult than it used to be
• Irregular heartbeat
• Greater trouble hearing
• Higher concentrations of creatine kinase (CK), an enzyme that powers bodily processes and gives cells energy

Diagnosis Of Pompe’s Disease

Enzymes in the blood are examined and quantified once a blood sample is collected. Additionally, there are exams like sleep studies, lung capacity exams, and electromyography (a test that gauges how effectively the muscles function).

Enzymes in the blood are examined and quantified once a blood sample is collected. DNA testing is used to confirm. Other testing consist of:

• Entire patient and family history collection
• Lung capacity assessments through breathing (pulmonary function tests)
• MRIs and electromyography (a test that assesses how effectively the muscles function)
• X-rays, electrocardiograms, and echocardiograms are examples of heart studies.
• Sleep research
• Pregnant women at risk may undergo a prenatal diagnostic.

Treatment Of Pompe’s Disease

For all Pompe patients, enzyme replacement therapy (ERT) is a recognised treatment. Alglucosidase alfa, a synthetic enzyme that mimics the action of the naturally occurring acid alf glucosidase enzyme, is administered intravenously.

Pompe disease sufferers can receive treatment for their symptoms and supportive care from specialised teams (heart doctors, respiratory therapists, neurologists, etc.). To learn more specifics for each unique situation, ask your doctors.

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