Glycogen storage disease type II facts for kids

Pompe disease, also known as Glycogen Storage Disease Type II, is a rare genetic condition. It happens when the body can't properly break down a sugar molecule called glycogen. Glycogen is like the body's stored energy. In people with Pompe disease, too much glycogen builds up in tiny parts of cells called lysosomes. These lysosomes are like the recycling centers of the cell. When they get too full of glycogen, they can't work properly, which causes problems in different parts of the body, especially muscles.

What is Pompe Disease?

Pompe disease is a disease that affects how your body uses energy. Normally, your body stores extra sugar as glycogen, mainly in your liver and muscles. When you need energy, your body breaks down this glycogen. This process needs a special helper molecule called an enzyme.

The Missing Enzyme

In Pompe disease, a specific enzyme called acid alpha-glucosidase (GAA) is missing or doesn't work well. This enzyme's job is to break down glycogen inside the lysosomes. Without enough working GAA enzyme, glycogen piles up in the lysosomes. This buildup damages the cells, especially in muscles, including the heart and muscles used for breathing.

How it Affects the Body

The buildup of glycogen can cause muscles to become weak. This weakness can affect many parts of the body. For example, it can make it hard to walk, run, or even breathe. The heart muscle can also be affected, leading to heart problems.

Types of Pompe Disease

Pompe disease can show up at different ages and with different levels of severity. Doctors usually divide it into two main types based on when symptoms start.

Infantile-Onset Pompe Disease

This type starts very early, usually within the first few months of a baby's life. Babies with this form often have severe muscle weakness. Their heart muscle can also be greatly affected, leading to serious heart problems. Breathing difficulties are common, and these babies need a lot of medical care.

Late-Onset Pompe Disease

This type can appear later in childhood, during teenage years, or even in adulthood. The symptoms are usually less severe than in babies. Muscle weakness is still the main problem, but it progresses more slowly. People might have trouble walking, climbing stairs, or lifting things. Breathing muscles can also weaken over time.

How Do People Get Pompe Disease?

Pompe disease is a genetic condition. This means it's passed down through families from parents to their children. It is an autosomal recessive disorder.

Genes and Inheritance

Everyone has two copies of most genes, one from each parent. For Pompe disease, a person needs to inherit a non-working copy of the GAA gene from both their mother and their father. If you get one non-working copy and one working copy, you are a "carrier." Carriers usually don't have symptoms of the disease themselves, but they can pass the non-working gene to their children.

Diagnosing Pompe Disease

Diagnosing Pompe disease involves looking at a person's symptoms and doing special tests. Because it's a rare disease, it can sometimes take a while to get a diagnosis.

Medical Tests

Doctors might do blood tests to check the level of the GAA enzyme. They can also do genetic tests to look for changes in the GAA gene. Muscle biopsies, where a tiny piece of muscle is examined, can also show glycogen buildup.

Treating Pompe Disease

While there is no cure for Pompe disease, treatments can help manage the symptoms and improve quality of life.

Enzyme Replacement Therapy

The main treatment is called Enzyme Replacement Therapy (ERT). This involves giving the missing GAA enzyme to the patient through an IV (into a vein). This helps the body break down the stored glycogen. ERT can help improve muscle strength and breathing, and it can slow down the progression of the disease.

Supportive Care

Besides ERT, people with Pompe disease often need other types of support. This can include physical therapy to help with muscle strength and movement. Respiratory support, like using a breathing machine, might be needed for those with breathing difficulties. A healthy diet and regular check-ups with doctors are also very important.

Pompe Disease Around the World

Pompe disease is considered a rare disease globally. It is one of the rarest diseases in India. Being rare means it affects only a small number of people compared to the general population. Research continues to find better treatments and hopefully, a cure for this condition.