Pompe’s disease is an inherited disease characterized by the accumulation of a complex sugar known as glycogen in the body's cells. The buildup of glycogen in specific tissues, particularly muscles, spoils their ability to function properly.
When Pompe’s Disease Strikes
One form of Pompe’s disease, recognized as a disease of infantile onset, starts within a few months of birth. Babies with this illness generally exhibit signs and symptoms like muscle fatigue (myopathy), poor muscle tone (hypotonia), expanded liver and heart, and coronary (heart) failure.
Affected babies can also exhibit poor feeding, problems with weight gain and thriving at the normal rate (failure to thrive), and breathing trouble. The majority of babies with Pompe’s disease can't hold their heads up or move properly. As the disorder worsens, swallowing may become almost impossible and the tongue could become abnormally thick (macroglossia). Most babies with this form of Pompe's don't make it past the age of 2.
Other Forms of Pompe’s Disease
Additional forms of Pompe's disease are considered of late onset and may not display symptoms until childhood, adolescence, or maturity. Late-onset Pompe’s disease is generally milder than the infantile-onset type of this disease.
Most patients experience gradual muscle fatigue, particularly in the lower extremities and the back, including the muscles that regulate breathing.
How Common is Pompe’s Disease?
Pompe’s disease strikes about one in forty thousand children. Genetic changes in the GAA gene factor induce Pompe’s disease.
The GAA gene gives instructions for creating an enzyme called acid alpha-glucosidase (commonly referred to as acid maltase). This enzyme works in lysosomes, which are cell structures that are much like a cell's recycling machine. The enzyme ordinarily decomposes glycogen into a simpler sugar known as glucose, which is the main energy provider for the majority of cells.
Genetic changes in the GAA gene keep acid alpha-glucosidase from digesting glycogen, permitting it to build up in the person's cells. Eventually, this accumulation damages cells throughout the system, especially the muscle cells.
This disease is inherited in an autosomal recessive form, which means both copies of the gene factor in each cell have undergone changes. The mother and father of a person with an autosomal recessive disease each carry one copy of the mutated gene, but they generally don't express symptoms of the disease.
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References:
M. L. Hagemans, L. P. Winkel, et al. "Clinical manifestation and natural course of late-onset Pompe’s disease in 54 Dutch patients." Brain. Published online January 19, 2005
M. R. Nihill, D. S. Wilson, and K. Hugh-Jones. "Generalized Glycogenosis Type II (Pompe's Disease)." Archives of Disease in Childhood. 45 (239): 122–129. February, 1970.
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