03-10-2008, 03:51 PM
A 15-year-old boy has a long history of school problems and is labeled as hyperactive. His tissues are puffy, giving his face a "coarse" appearance. His IQ tests have declined recently and are now markedly below normal. Laboratory studies demonstrate normal amounts of sphingolipids in fibroblast cultures with increased amounts of glycosaminoglycans in urine. Which of the following enzyme deficiencies might explain the boy's phenotype?
A. Hexosaminidase A B. Glucocerebrosidase C. -L-iduronidase D. -galactocerebrosidase E. -gangliosidase A
A. Hexosaminidase A B. Glucocerebrosidase C. -L-iduronidase D. -galactocerebrosidase E. -gangliosidase A