Pompe Disease

Not yet reviewed

This information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.

Disease overview

lysosomal storage disorder resulting in glycogen accumulation in lysosomes; most heavily affects muscle of all types

Common symptoms

Infantile form: failure to thrivehypotoniacardiomegalybreathing troubleall within first few months of life. Late-onset form: symmetric limb-girdle muscle weaknessheart usually sparedvariable age of presentation

When to suspect

  • Recommendation 1

    Blood test to assess enzymatic acticity of acid alpha-glucosidase (GAA). Dried bloodspot testing if local assay not available. [LabCorp ID] Positive tests are recommended to be confirmed with skin biopsy. Note that as of 2021, 22 US states test newborns for Pompe disease

How to test

  • Recommendation 1

    Blood test to assess enzymatic acticity of acid alpha-glucosidase (GAA). Dried bloodspot testing if local assay not available. [LabCorp ID] Positive tests are recommended to be confirmed with skin biopsy. Note that as of 2021, 22 US states test newborns for Pompe disease

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Treatment

Primary care

  • Recommendation 1

    Chest x-ray, EKG, echocardiogram, and pulmonary function tests are recommended evaluations. Patients may respond poorly to

  • Recommendation 2

    digoxin, ionotropes, afterload-reducing agents

  • Recommendation 3

    these should be avoided unless recommended by an expert late in the disease course. Pregnancy is not contraindicated in adults but may require closer respiratory and cardiac monitoring. Low threshold to initiate CPAP, BiPAP, or even tracheostomy in the setting of respiratory distress. Patients typically are at higher risk for swallowing dysfunction and may require tube feeds for safety. Physical, occupational, and speech therapy should be involved early [more]. Regular pulmonary function testing, screening for cardiac hypertrophy, and renal function tests. Physical therapy to maximize muscle function. Consider for enzyme-replacement therapy. Children need more frequent assessments for nutrition assistance and development monitoring. Support org

  • Recommendation 4

    AMDA

Further support

  • Recommendation 1

    Pediatric geneticist should be included as part of a multidisciplinary care team. Most large academic medical centers have pediatric geneticists who treat inborn errors of metabolism. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.

Clinical trials

Clinical Trials

Sources

No data available

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