HY USMLE Q #914 – Biochemistry

A 2-year-old boy is brought to the pediatrician for developmental delay. Physical examination shows coarse facial features and joint contractures. Laboratory tests show elevated levels of lysosomal enzymes in the blood. Which of the following is most likely to be seen in this patient?

  Deficiency of glucocerebrosidase
  Deficiency of hexosaminidase A
  Deficiency of sphingomyelinase
  Impaired ability to catabolize glycogen
  Impaired ability to phosphorylate mannose