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Old 05-17-2011
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Question Child with aggressive behavior, what biochemical basis of disease?

A 5-year-old boy is seen by a pediatrician because his parents are concerned about his aggressive behavior, hyperactivity, and a loss of language skills. He also has recently become increasingly unsteady on his feet and has experienced a recent seizure. Slight facial feature coarsening is noted. In which of the following processes is this child most likely to have a disorder?

A. Mobilization of glycogen
B. Gluconeogenesis
C. Salvage of purine bases
D. Degradation of glycosaminoglycans
E. Cholesterol metabolism
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Old 05-17-2011
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Default D

degradation of glycosaminoglycans
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Old 05-17-2011
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Ans is choice D.

This is X-linked mucopolysaccharidosis II (MPS II) which is a lysosomal storage disease, also known as Hunter Syndrome. Hunter syndrome is a rare inborn error of metabolism characterized by inadequate production of enzyme iduronate sulfatase, which is needed to break down complex sugars produced in the body.

Some of the important clues for this disorder include:

-Male sex (x-linked)
-Aggressive behavior
-Coarse facial features
-Progressive growth delays (resulting in short stature)

Another associated feature is restriction of movements.
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