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ENFERMEDAD DE POMPE
Pompe Disease
Integrante:
Jennifer Garcia
CI: 19.075.977
Valera, Mayo de 2016
DEFINITION:
Pompe disease is a progressive and debilitating neuromuscular disease
comprising a range of phenotypes ranging from a course of rapid progression,
which is usually fatal within the first year of life to a course of progressive
degeneration, resulting in a significant morbidity and / or premature mortality.
Some patients present in early childhood cardiomyopathy which rapidly
progresses, muscle weakness and hypotonia and die of cardiorespiratory failure
before their first birthday. Other patients present in childhood or adulthood
progressive muscle weakness resulting in high dependency and premature death.
The disease can have a significant impact on patients and their families. Adult
patients recorded a more variable rate of progression of the disease, but despite
this Pompe disease is a condition that progresses relentlessly to cause serious
dependence on the patient.
The underlying cause of this disease is hereditary deficiency of alpha-glucosidase
enzyme acid (GAA, for its acronym in English). People born with Pompe disease
inherited deficiency of this enzyme. Enzymes are protein molecules within cells,
facilitate biochemical reactions in the body. The GAA is located in vesicles of the
cell called lysosomes. In a healthy person with normal GAA activity, this enzyme
helps the breakdown of glycogen, a complex molecule made up of sugar units in
the lysosomes. Pompe disease in GAA activity is very low or nonexistent and
lysosomal glycogen is not degraded efficiently, so that excessive accumulation of
glycogen in the lysosome occurs.
This accumulation causes serious respiratory consequences in cardiac cells,
skeletal and smooth muscle. The severity of the disease and rate of progression
depend, usually, the degree of enzyme deficiency. The lower the amount of
residual enzyme before symptoms and faster be presented will be the course of
the disease.
Early treatment with GAS, before irreversible muscle damage that occurs, can help
minimize or even avoid the need for some support treatments.
The GAA is a new drug for Pompe disease which replaces the deficient enzyme in
this disease and is the first treatment that addresses the underlying cause. The
amino acid sequence of GAA is identical to the natural form of human GAA. GAA
as the original enzyme degrades glycogen and catalyzes the hydrolysis of alpha1,4 glucosidic bonds and alpha-1,6 lysosomal glycogen.
Enzyme replacement therapy with GAS compensates the deficit observed GAA in
Pompe disease by administering to patients in bi-weekly infusions.