Skip to main content

Alglucosidase alfa for Pompe Disease: What is it? How does it work? How is it consumed? Is it safe? Side effects? Studies? Research?

Pompe disease, also known as glycogen storage disease type II, is a rare genetic disorder characterized by its name. People with Pompe disease have cells with excess accumulation of glycogen, which leads to progressive muscle weakness and problems with breathing (respiratory issues.) Alglucosidase alfa therapy is a recombinant enzyme replacement therapy, which basically means that it replaces the enzyme that patients are deficient in. This therapy works to replace alpha-glucosidase, the enzyme acid which breaks down excess glycogen. 

In people with Pompe disease, symptoms manifest in two ways: loss of muscular strength and inability to breath efficiently. This is because, the deficiency of alpha-glucosidase leads to buildup of the glycogen in lysosomes, which are crucial organelles for muscle cells. However, when alglucosidase alfa therapy is administered and the enzyme is taken up by the patient's body, they receive enough of the enzyme for the cells to take it in using receptors on their cells (specifically called mannose-6-phosphate receptors.) 

Alglucosidase alfa therapy is administered mostly on a biweekly basis intravenously (using an IV drip.) The specific dosage depends on the weight of the patient. Usually, a standard formula of 20mg/kg is given every two weeks. They are also continuously monitored to prevent infusion-related reactions like swelling, tenderness, itchiness, etc. 

People who shouldn't take this therapy include people who have hypersensitivity to any of the components of the enzyme OR people who have ever experienced severe reactions to IV fluids; but these things are usually ruled out right when your doctor discusses the disease and possible treatment plans with you. 

The efficacy of Alglucosidase alfa therapy is very widely accepted, especially due to the numerous studies which support it. For example, this specific study from 2006 in the New England Journal of Medicine titled, "Enzyme replacement therapy for infantile-onset Pompe disease" found that Alglucosidase alfa resulted in significant improvement in cardiac function of patients, motor skills in infants, and even things as large as survival rates. 

Comments

Post a Comment

Please add your name when you comment down below!

Popular posts from this blog

The top 4 diets for PCOS: DASH diet, high protein diet, reduced calorie diet, and the keto diet. Which is better?

 PCOS is a  condition wherein people have imbalanced hormone levels. These imbalances present themselves in the form of polycystic ovaries, chronic irregular periods, and higher levels of testosterone in the form of increased body/facial hair. Among people who have PCOS, 80% of patients will hold fat around their belly and gain weight because of the effects of hormonal imbalances on their bodies. These effects include insulin resistance, gut dysbiosis, low-grade inflammation and more.  To treat this weight gain, doctors tend to recommend different diets to PCOS patients. But, the efficacy of these diets are heavily dependent on the person's individual situation. There are four major dietary approaches used to lose weight for people with PCOS: Reduced calorie diets, DASH diets, high protein diets, and keto diets. For most people, a combination of all of these diets will work best.  Here's a short explanation of each of these diets:  1) Reduced calorie diet: You e...
Post a Comment
Read more

Eliglustat for Gaucher disease: How does it work? How is it consumed? Side effects? Is it safe? Efficacy? Research? Evidence?

Gaucher disease is a rare genetic disorder wherein the body lacks the ability to break down a specific kind of fat, which leads to accumulation thereof around various parts of the body, such as organs and bones. Eliglustat is one of the most common medications prescribed to help treat the disease by reducing production of the fat itself.  The disease is an inherited lysosomal storage disorder which is caused by an enzyme deficiency, specifically a low level of glucocerebrosidase. This enzyme breaks down a fat with a similar name, glucocerebroside. When the body lacks production of the enzyme, the fat accumulates around and in cells of the spleen, liver, and bone marrow. This causes a variety of symptoms in patients, and can present itself in bizarre ways like: enlarged spleens and livers, increased bone pain and occurrence of fractures, fatigue, anemia and even increased bruising.  Eliglustat, the medicine provided to patients, works in one way: substrate reduction. Basically,...
Post a Comment
Read more

How does oxymetazoline work to clear your nasal passages?

Oxymetazoline Hydrochloride is a topical nasal decongestant that is often found in most OTC nasal sprays like Otrivin in India. It works quite effectively with regards to relieving people from nasal congestion caused by things like colds, allergies, or sinusitis by constricting blood vessels in the nasal passages. The medication is an alpha-adrenergic receptor binder, meaning that it binds to the alpha-adrenergic receptors. These receptors are found on the smooth muscle cells which line blood vessels in the nasal mucosa. When oxymetazoline is applied to the nasal mucosa through droplets, it stimulates the receptors and triggers them to cause constriction of nasal blood vessels. Through vasoconstriction, there is a reduce in blood flow to the region, causing decreased swelling and inflammation. It also reduces how much mucus is produced, since it reduces the quantity of fluid that leaks into the passages. Thus, air can flow more freely in the passage, providing relief from the blocked n...
Post a Comment
Read more