Friday, June 27, 2008
MYOZYME for POMPE’S disease
Carbohydrates’ play a role in protein folding to assume its native conformation.
Aside from important sources of energy to support the different life processes, carbohydrates are used for glycosylation of protein molecules for them to assume their native structures. An example of this is myozyme, a new treatment modality for a rare glycogen storage disease, Pompe’s disease.
Incorporation of monosaccharide residues into the protein molecule play an important role on how the protein folds into its functional form.
Pompe’s disease is one of the glycogen storage diseases that is due to the deficiency of the lysosomal alpha1-4 or alpha 1-6 glucosidase enzyme.
This is a fatal condition wherein there is an accumulation of lysosomal glycogen deposits.
Pompe’s disease is also known as a metabolic muscle disease as the muscle weaknesses occur as a result of changes inside the body's cells. It was first described by J.C Pompe, a Dutch doctor, in 1932. He had observed an infant with severe muscle weakness and a very enlarged heart. Pompe’s disease is characterized by progressive muscle weakness especially muscles for breathing and mobility affecting severely infants’ heart muscle. It does not appear to affect mental development.Two kinds:1. Infantile-onset type. Symptoms appear during the first months of life and progresses rapidly and is generally fatal before one year old. 2. A type over one-year-old or (late-onset type). Could be babies, children or adults. Progresses more slowly than infantile-onset type. Muscles weaken progressively.
Aside from important sources of energy to support the different life processes, carbohydrates are used for glycosylation of protein molecules for them to assume their native structures. An example of this is myozyme, a new treatment modality for a rare glycogen storage disease, Pompe’s disease.
Incorporation of monosaccharide residues into the protein molecule play an important role on how the protein folds into its functional form.
Pompe’s disease is one of the glycogen storage diseases that is due to the deficiency of the lysosomal alpha1-4 or alpha 1-6 glucosidase enzyme.
This is a fatal condition wherein there is an accumulation of lysosomal glycogen deposits.
Pompe’s disease is also known as a metabolic muscle disease as the muscle weaknesses occur as a result of changes inside the body's cells. It was first described by J.C Pompe, a Dutch doctor, in 1932. He had observed an infant with severe muscle weakness and a very enlarged heart. Pompe’s disease is characterized by progressive muscle weakness especially muscles for breathing and mobility affecting severely infants’ heart muscle. It does not appear to affect mental development.Two kinds:1. Infantile-onset type. Symptoms appear during the first months of life and progresses rapidly and is generally fatal before one year old. 2. A type over one-year-old or (late-onset type). Could be babies, children or adults. Progresses more slowly than infantile-onset type. Muscles weaken progressively.
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