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At least eight different inherited disorders of cholesterol biosynthesis are recognized in humans that lead to congenital abnormalities in those afflicted, including developmental malformation and neurologic defects, while deficiencies in the enzymes responsible for the hydrolysis of cholesterol esters, such as the lysosomal acid lipase, occur in Wolman disease and cholesterol ester storage disease

This process can result in fusion of the sacroiliac joints and spine, leading to loss of spinal mobility, alterations in lumbar lordosis, and kyphosis, which can be observed on radiographs as the characteristic bamboo spine (24)

also called LAP* and LAP) originate through regular translation initiation, and they are transcriptional activators