Pompes disease

Pompe disease is a rare genetic disease characterized by the abnormal buildup of a sugar molecule called glycogen inside cells. This buildup impairs the working of different organs and tissues, especially the heart, respiratory, and skeletal muscles.
Pompe disease, sometimes referred to as glycogen storage disease type II, is one of nearly 50 diseases classified as lysosomal storage disorders (LSD).Pompe disease is caused by mutations, or abnormalities, in the GAA gene, which encodes for an enzyme called acid alpha-glucosidase

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

2. DEFINATION  Pompe disease is a rare genetic disease characterized by the abnormal buildup of a sugar molecule called glycogen inside cells. This buildup impairs the working of different organs and tissues, especially the heart, respiratory, and skeletal muscles. Pompe disease, sometimes referred to as glycogen storage disease type II, is one of nearly 50 diseases classified as lysosomal storage disorders (LSD).

3. 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.

4. 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.

5. 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. Enzyme replacement therapy

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