Is Pompe disease a glycogen storage disease?

Is Pompe disease a glycogen storage disease?

Pompe disease is known under the alternative names ‘glycogen storage disease type II’ (GSDII), acid alpha-glucosidase (GAA) deficiency, and ‘acid maltase’ deficiency (acid maltase is another name for acid alpha-glucosidase).

Is Pompe disease a lysosomal storage disorder?

Pompe disease, an inherited deficiency of lysosomal acid α-glucosidase (GAA), is a severe metabolic myopathy with a wide range of clinical manifestations. It is the first recognized lysosomal storage disorder and the first neuromuscular disorder for which a therapy (enzyme replacement) has been approved.

What organelles are affected by Pompe disease?

Pompe disease is a lysosomal storage disorder in which acid alpha-glucosidase (GAA) is deficient or absent. Deficiency of this lysosomal enzyme results in progressive expansion of glycogen-filled lysosomes in multiple tissues, with cardiac and skeletal muscle being the most severely affected.

What is McArdle’s disease?

Type V (five) glycogen storage disease (GSD V) is a rare inherited condition in which the body is not able to break down glycogen. Glycogen is an important source of energy that is stored in all tissues, especially in the muscles and liver. GSD V is also called McArdle disease.

What are the two types of Pompe disease?

There are two types of Pompe disease: infantile Pompe disease and late-onset Pompe disease. Symptoms of infantile Pompe disease appear during infancy. Infantile Pompe disease is further categorized as either classic or non-classic. When a child has infantile Pompe disease, symptoms appear shortly after birth.

Is PKU a lysosomal storage disease?

The first widely utilized newborn screen for a genetic disease did not detect a lysosomal storage disease; rather, it tested for phenylketonuria (PKU), a genetic disorder caused by the inability to break down an amino acid called phenylalanine. Amino acids are the building blocks of proteins.

What are the most common symptoms observed in 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 Anderson’s disease?

Andersen disease is also known as glycogen storage disease (GSD) type IV. It is caused by deficient activity of the glycogen-branching enzyme, resulting in accumulation of abnormal glycogen in the liver, muscle, and/or other tissues.

What is Forbes disease?

Cori/Forbes disease, or glycogen storage disease type III, is a rare hereditary genetic disease which causes deficiency of an enzyme that converts glycogen into glucose. It leads to hypertrophy of the liver, delayed growth in children and progressive muscle weakness.

What is Pompe disease caused by?

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 most common lipid storage disease?

What are the types of lipid storage disease?

• Type 1 (or nonneuronopathic type) is the most common form of the disease in the U.S. and Europe.
• Type 2 (or acute infantile neuropathic Gaucher disease) typically begins within 3 months of birth.

What are the lipid related diseases?

Lipid metabolism disorders, such as Gaucher disease and Tay-Sachs disease, involve lipids. Lipids are fats or fat-like substances. They include oils, fatty acids, waxes, and cholesterol. If you have one of these disorders, you may not have enough enzymes to break down lipids.

What is Tarui disease?

Disease definition. Muscle phosphofructokinase (PFK) deficiency (Tarui’s disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood.

What is Andersen disease?

What is Tay Sachs syndrome?

Overview. Tay-Sachs disease is a rare genetic disorder passed from parents to child. It’s caused by the absence of an enzyme that helps break down fatty substances. These fatty substances, called gangliosides, build up to toxic levels in the brain and spinal cord and affect the function of the nerve cells.

What are lipid storage diseases?

Definition. Lipid storage diseases are a group of inherited metabolic disorders in which harmful amounts of fatty materials (lipids) accumulate in various tissues and cells in the body.