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Pompe disease

Overview

 Pompe disease, also known as acid maltase deficiency or glycogen storage disease type II, is a rare and often fatal genetic disorder that affects the body's ability to break down glycogen, resulting in the buildup of glycogen in cells. It is caused by mutations in the GAA gene, leading to a deficiency of the enzyme acid alpha-glucosidase (GAA) which is responsible for breaking down glycogen.

Causes

  • Pompe disease is caused by mutations in the GAA gene, which provides instructions for making the enzyme acid alpha-glucosidase (GAA).
  • This enzyme is responsible for breaking down glycogen, a complex sugar molecule, into glucose within lysosomes (cellular structures responsible for waste management).

Symptoms

  • Muscle weakness, particularly in the legs and the trunk
  • Enlarged heart (cardiomegaly)
  • Breathing difficulties
  • Poor muscle tone
  • Failure to thrive

    •  In the late-onset form

  • Progressive muscle weakness, especially in the legs and the trunk
  • Breathing difficulties, particularly during exertion or while lying down
  • Enlarged heart
  • Poor muscle tone and motor skills
  • Fatigue

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    Treatment: Modern Medicine

    Specific treatments may include:

  • Enzyme Replacement Therapy (ERT)

    • Treatment: Traditional Medicine

  • Respiratory Support
  •  Physical and Occupational Therapy
  • Dietary Management
  • Orthopedic Interventions
  • Cardiac Care
  • Supportive Measures
  • Genetic Counseling

    • Caution

  • Infantile Form
  • Late-Onset Form

    • Prevention

  • Prenatal testing
  • Carrier testing
  • Cord blood banking

    • Category

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