The Mucopolysaccharidoses

The mucopolysaccharidoses (MPS disorders) are a group of autosomal-recessive genetic abnormalities of mucopolysaccharide metabolism that results in variable impairment across physical, sensory, cognitive, and behavioral domains. There are six main types of MPS, many of which include specific subtypes. Prevalence estimates vary based on the subtype of MPS disorders and geographic location. Prevalence estimates range from 1 in 25,000 (Sanfilippo syndrome in the United Kingdom) to 3 in 1 million persons (Morquio syndrome).

Often, MPS disorder results in impairment of the skeletal system. Other organ systems that are impacted include the cardiovascular, respiratory, and nervous systems. Skeletal impairments include widened collarbone and ribs, progressive curvature of the lower spine, short stature, shortened neck, claw-like hands, joint contractures, enlarged head, flattened bridge of the nose, protruding tongue, and thick hair coupled with excessive body hair.

Intelligence varies within subtypes of MPS from average to progressive mental retardation. Behavioral issues also vary within subtypes of the MPS disorders. Individuals with Hurler syndrome, for example, are described as being anxious, restless, and having sleep problems but are not aggressive. Children with Hunter syndrome are overactive, aggressive/destructive, fearful, defiant, and also have sleep problems. Children with Sanfilippo syndrome manifest the most noticeable behavioral symptoms. These children often wander aimlessly, are restless, mouth clothing and objects, have sleep problems, and can be aggressive even when not provoked.

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