What is the molecular cause of Pompe disease?
Pompe disease (PD) is an autosomal recessive lysosomal disorder caused by the deficient activity of acid alpha-glucosidase (GAA) enzyme due to mutations in the GAA gene. The enzymatic deficiency leads to the accumulation of glycogen within the lysosomes.
What is the defective enzyme in Pompe disease?
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 gene is mutated in Pompe disease?
Pompe disease is caused by pathogenic variations (mutations) in the acid alpha-glucosidase (GAA) gene. Close to 600 different GAA gene variations have been identified in families with this disorder.
What macromolecule is affected by Pompe disease?
Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body’s cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.
What chromosome is affected by Pompe disease?
Pompe disease (PD) is a rare autosomal recessive disorder caused by mutations in the GAA gene, localized on chromosome 17 and encoding for acid alpha-1,4-glucosidase (GAA). Currently, more than 560 mutations spread throughout GAA gene have been reported.
What enzyme causes Tarui disease?
Tarui disease (GSD VII) is caused by an inherited deficiency of muscle phosphofructokinase (PFK) and manifests with the combination of myopathy and hemolysis.
What organelle would Pompe affect?
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 chromosome is affected by Pompe?
Parents pass Pompe disease to their children. The gene responsible for the disease is located on chromosome 17. Everyone has two copies of a chromosome and therefore of each gene on a chromosome.
How does the change in the lysosome structure and function result in the symptoms of Pompe disease?
Mutations in the GAA gene prevent acid alpha-glucosidase from breaking down glycogen effectively, which allows this sugar to build up to toxic levels in lysosomes. This buildup damages organs and tissues throughout the body, particularly the muscles, leading to the progressive signs and symptoms of Pompe disease.
What type of disease is Pompe?
What is Pompe disease? Pompe disease is a genetic disorder in which complex sugar called glycogen builds up in the body’s cells. The disease results from the deficiency of an enzyme called acid alfa glucosidase (GAA), which breaks downs complex sugars in the body.
Why is there hemolysis in Tarui?
The abnormally high concentration of calcium ions reduces the elasticity of the red blood cell membranes, which is probably the direct cause of the accelerated disintegration of red blood cells (haemolysis) and jaundice in patients with Tarui disease. This condition is inherited in an autosomal recessive pattern.
What causes Phosphofructokinase deficiency?
Phosphofructokinase deficiency is caused by a genetic defect in the phosphofructokinase enzyme, which affects the breakdown of glucose (sugar).
What does Pompe disease do to lysosomes?
What happens to lysosomes in Pompe disease?
What role do lysosomes play in Pompe disease?
In Pompe disease, lysosomes do not contain enough of an enzyme called acid alpha-glucosidase (GAA.) This enzyme is necessary to break down glycogen — a complex sugar molecule — into glucose, the simple sugar that the body uses for energy. If glycogen is not broken down, it builds inside cells and causes damage.
Which enzyme is deficient in McArdle disease?
McArdle disease is an inherited disease. It results from changes (mutations) in the gene for the enzyme muscle phosphorylase. Your muscle cells can’t make this enzyme.
Does Myozyme work for Pompe disease?
Myozyme has been shown to improve ventilator-free survival in patients with infantile-onset Pompe disease as compared to an untreated historical control, whereas use of Myozyme in patients with other forms of Pompe disease has not been adequately studied to assure safety and efficacy.”
How is muscle function restored in murine Pompe disease?
Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease. Hum. Mol. Genet.19, 684–696 10.1093/hmg/ddp535 [PMC free article][PubMed] [CrossRef] [Google Scholar]
What is the pathophysiology of progressive Pompe disease?
Pompe disease (PD) is a rare autosomal recessive disorder caused by mutations in the GAA gene, localized on chromosome 17 and encoding for acid alpha-1,4-glucosidase (GAA). Currently, more than 560 mutations spread throughout GAAgene have been reported.
Does albuterol enhance enzyme replacement therapy in late-onset Pompe disease?
Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease. FASEB J.28, 2171–2176 10.1096/fj.13-241893 [PubMed] [CrossRef] [Google Scholar]