cellular
• in embryonic and adult skin fibroblasts intracellular lysosomal emzyme levels are decreased
• embryonic fibroblasts and thymocytes secrete higher levels of phosphorylated ligands of lysosomal enzymes
|
• in embryonic and adult skin fibroblasts dense inclusions are seen in the cytoplasm and large vacuoles often consisting of compact clusters of smaller translucent vesicles are seen
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homeostasis/metabolism
• about a 5-fold increase in mannose-6-phosphate containing glycoprotein levels
|
• about a 2-fold increase in serum beta-galactosidase, beta-glucuronidase, and arylsulfatase activities
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skeleton
N |
• no signs of joint stiffness are detected
|
renal/urinary system
• about a 5-fold increase in mannose-6-phosphate containing glycoprotein levels
|