What is Glycogenosis type II disease?

Glycogen-storage disease type II (GSD II), also known as Pompe disease, is part of a group of metabolic diseases called lysosomal storage disorders (LSDs). GSD II is an autosomal-recessive disorder that results from deficiency of acid alpha-glucosidase (also known as acid maltase), a lysosomal hydrolase.

What are the signs and symptoms of Pompe disease?

What are the symptoms of each type of Pompe disease?

  • Weak muscles.
  • Poor muscle tone.
  • Enlarged liver.
  • Failure to gain weight and grow at the expected rate (failure to thrive)
  • Trouble breathing.
  • Feeding problems.
  • Infections in the respiratory system.
  • Problems with hearing.

What is Pompe’s disease?

Definition. Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and skeletal muscles. It is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA).

What is the life expectancy of someone with Pompe disease?

They have characteristic heart (cardiac) problems (dysfunction due to heart enlargement) in addition to generalized skeletal muscle weakness and a life expectancy of less than 2 years, if untreated (classic infantile Pompe disease).

What is the most common glycogen storage disease?

Type I (Von Gierke disease) – this is the most common type of glycogen storage disease, and accounts for 90% of all glycogen storage disease cases. Type II (Pompe’s disease, acid maltase deficiency)

What is von Gierke disease?

Von Gierke disease is a condition in which the body cannot break down glycogen. Glycogen is a form of sugar (glucose) that is stored in the liver and muscles. It is normally broken down into glucose to give you more energy when you need it. Von Gierke disease is also called Type I glycogen storage disease (GSD I).

What type of doctor treats Pompe disease?

Because Pompe disease can affect many parts of the body, it’s best to see a team of specialists who know the disease well and can help you manage your symptoms. This might include: A cardiologist (heart doctor) A neurologist, who treats the brain, spinal cord, nerves, and muscles.

What is the most common lysosomal storage disease?

Gaucher Disease Types I, II, and III: Gaucher disease is the most common type of lysosomal storage disorder. Researchers have identified three distinct types of Gaucher disease based upon the absence (type I) or presence and extent of (types II and III) neurological complications.

What does Fabry disease do to a person?

People who have Fabry disease don’t have the enzymes that break down lipids or fats. These fats collect in blood vessels and tissue, raising the risk of heart attack, stroke and kidney failure. This genetic condition is passed from parent to child.

Can you survive Pompe disease?

They can survive up to age 30 if the disease appears in childhood and up to age 50 if it develops in adulthood. Generally, the later the age of onset, the slower the disease progression and the longer the life expectancy.

Is Pompe disease painful?

Nearly one in two Pompe patients had experienced pain in the previous 24h. Although pain severity and its interference with daily life were mild, pain was related to a reduced quality of life, less participation in daily life, and greater depression and anxiety.

How do you confirm von Gierke disease?

Tests that may be done include:

  1. Biopsy of liver or kidney.
  2. Blood sugar test.
  3. Genetic testing.
  4. Lactic acid blood test.
  5. Triglyceride level.
  6. Uric acid blood test.

What causes glycogen storage disease type 2?

Glycogen storage disease type II. Glycogen storage disease type II, also called Pompe disease, is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme.

What causes the accumulation of glycogen in the lysosome?

It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme. It is the only glycogen storage disease with a defect in lysosomal metabolism, and the first glycogen storage disease to be identified, in 1932 by the Dutch pathologist J. C. Pompe .

How many children have glycogen storage disease?

Overall, according to a study in British Columbia, approximately 2.3 children per 100,000 births (1 in 43,000) have some form of glycogen storage disease. In the United States, they are estimated to occur in 1 per 20,000–25,000 births.

Are there any drugs for glycogen storage disease?

Another similar drug called Lumizyme has recently been approved for the treatment this disease. [1] [3] [5] Additional treatment of Pompe disease is symptomatic and supportive and may include respiratory and feeding support and physical therapy.