Pompe disease has three types: classic infantile-onset, non-classic infantile-onset, and late-onset, with varying appearance times and symptoms in infants, children, or adults. It is caused by a mutation in the gaa gene leading to acid maltase deficiency, resulting in sugar accumulation in muscles and organs, and can be inherited in an autosomal recessive pattern. Diagnosis involves enzyme tests and imaging, while treatment primarily includes enzyme replacement therapy alongside supportive care such as physiotherapy and dietary adjustments.

1. P.ASMAAFREEN
PHARM.D INTERN
15EAIT0018
SEMINAR ON POMPE DISEASE

2. Types of Pompe Disease
There are three types of Pompe disease:
 Classic infantile-onset appears within a few months of birth.
 Non-classic infantile-onset appears at about 1 year of age.
 Late-onset appears later in a child’s life, or even into the teen years or
adulthood.

3. EPIDEMIOLOGY
 Incidence of pompe’s disease varies according to
ethnicity and region; it is estimated to be 1: 40,000.
 In european it is estimated to be 1:100,000 in early onset
and in 1:60,000 in adults.

4. ETIOLOGY
 Pompe disease is caused by a mutation in the GAA gene, which leads to
a deficiency in a specific protein—an enzyme called acid maltase.
 Mutations in the GAA gene keep acid maltase from properly breaking
down complex sugars within the body’s cells.
 Pompe disease is caused by an accumulation of these sugars and other
molecules in the body’s organs and tissues, particularly in muscles.
 This genetic condition is inherited in an autosomal recessive pattern,
which means that an affected child has received one defective copy of
the GAA gene from each of their parents.

6. Pathophysiology

7. SYMPTOMS
Classic infantile
 Trouble eating and not gaining weight
 Poor head and neck control
 Rolling over and sitting up later than
expected
 Breathing problems and lung infections
 Enlarged and thickening heart or heart
defects
 Enlarged liver
 Enlarged tongue
Non-classic type:
 Motor skills delayed (such as
rolling over and sitting)
 Muscles get steadily weaker
 Abnormally large heart
 Breathing problems

8. Late-onset
 Feeling weak in the legs, trunk, and
arms
 Shortness of breath, a hard
time exercising, and lung infections
 Trouble breathing while you sleep
 A big curve in your spine
 Enlarged liver
 Enlarged tongue that makes it hard to
chew and swallow
 Stiff joints

9. COMPLICATIONS
Complications of Pompe disease include :
 Without treatment, infants with pompe disease will die.
 Respiratory (breathing) problems,
 Heart problems, and
 Almost all are plagued with muscle weakness.
 Most people will have to use oxygen and wheelchairs at some
point.

10. DIAGNOSIS
 Taking of a complete patient and family history
 A blood sample is taken and enzymes in the blood
are studied and counted.
 Breathing tests to measure lung capacity
(pulmonary function tests)
 Electromyography (a test that measures how well
the muscles work) and MRIs
 Heart studies, including X-
rays, electrocardiogram and echocardiogram
 Sleep studies

11. Enzymereplacementtherapy

12. TREATMENT
 Enzyme replacement therapy (ERT) is an approved
treatment for all Pompe patients.
Supportive treatment:
 Maintaining normal blood sugar level.
 Supplementation of multivitamins, calcium and vit D
 Allopurinol, ACE- inhibitors, statins.
 Alglucosidase Alfa is given at 2mg/kg intravenously
for 2 weeks. It is a genetically engineered enzyme
that acts like the naturally occurring acid Alfa
glycosidase enzyme.

13. Physiotherapy is recommended to improve strength and physical ability.
Occupational therapy, including the use of canes or walkers, may be
necessary.
Non –pharmacology treatment
 High protein diet and supplements
 Supportive care
 Exercise
 Take alanine supplement

14. REFERENCE
1. https://my.clevelandclinic.org/health/diseases/15808-pompe-
disease/prevention
2. https://www.webmd.com/a-to-z-guides/pompe-disease#3
3. http://www.childrenshospital.org/conditions-and-
treatments/conditions/p/pompe-disease
4. https://emedicine.medscape.com/article/119506-treatment
5. https://www.slideshare.net/jaimeandres104/pompe-disease