Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans (GAGs). These long chains of sugar carbohydrates occur within the cells that help build bone, cartilage, tendons, corneas, skin and connective tissue. GAGs (formerly called mucopolysaccharides) are also found in the fluids that lubricate joints. Individuals with mucopolysaccharidosis either do not produce enough of one of the eleven enzymes required to break down these sugar chains into simpler molecules, or they produce enzymes that do not work properly. Over time, these GAGs collect in the cells, blood and connective tissues. The result is permanent, progressive cellular damage which affects appearance, physical abilities, organ and system functioning. The mucopolysaccharidoses are part of the lysosomal storage disease family, a group of more than 40 genetic disorders that result when the lysosome organelle in animal cells malfunctions. The lysosome can be thought of as the cells recycling center because it processes unwanted material into other substances that the cell can utilize. Lysosomes break down this unwanted matter via enzymes, highly specialized proteins essential for survival. Lysosomal disorders like mucopolysaccharidosis are triggered when a particular enzyme exists in too small an amount or is missing altogether. Signs and symptoms
The mucopolysaccharidoses share many clinical features but have varying degrees of severity. These features may not be apparent at birth but progress as storage of GAGs affects bone, skeletal structure, connective tissues, and organs.
Prevention
Physical activity in extremely hot weather should be avoided. If a person starts to experience over heating, and symptoms of heat syncope, they should move or be moved to a shaded or cool area. It is also recommended to avoid alcoholic beverages in hot weather, because they cause dehydration which may worsen symptoms. Finally, drinking plenty of water with electrolytes is imperative when engaging in physical activity in hot weather. Treatment
The basic treatment for heat syncope is like that for other types of fainting: the patient is positioned in a seating or supine position with legs raised. Water containing salt, or another drink containing electrolytes, is administered slowly, and the patient is moved to a cooler area, such as the shade. The affected person should rest and recover, because heat syncope can lead to heat stroke or heat exhaustion. References


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